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dbSNP Short Genetic Variations

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs28934574

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr17:7673776 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.00000 (1/246198, GnomAD)
A=0.00002 (2/120540, ExAC)
Clinical Significance
Reported in ClinVar
Gene : Consequence
TP53 : Missense Variant
Publications
22 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p12 chr 17 NC_000017.11:g.7673776G>A
GRCh38.p12 chr 17 NC_000017.11:g.7673776G>C
GRCh37.p13 chr 17 NC_000017.10:g.7577094G>A
GRCh37.p13 chr 17 NC_000017.10:g.7577094G>C
TP53 RefSeqGene (LRG_321) NG_017013.2:g.18775C>T
TP53 RefSeqGene (LRG_321) NG_017013.2:g.18775C>G
Gene: TP53, tumor protein p53 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TP53 transcript variant 5 NM_001126115.1:c.448C>T R [CGG] > W [TGG] Coding Sequence Variant
cellular tumor antigen p53 isoform d NP_001119587.1:p.Arg150Trp R (Arg) > W (Trp) Missense Variant
TP53 transcript variant 5 NM_001126115.1:c.448C>G R [CGG] > G [GGG] Coding Sequence Variant
cellular tumor antigen p53 isoform d NP_001119587.1:p.Arg150Gly R (Arg) > G (Gly) Missense Variant
TP53 transcript variant 6 NM_001126116.1:c.448C>T R [CGG] > W [TGG] Coding Sequence Variant
cellular tumor antigen p53 isoform e NP_001119588.1:p.Arg150Trp R (Arg) > W (Trp) Missense Variant
TP53 transcript variant 6 NM_001126116.1:c.448C>G R [CGG] > G [GGG] Coding Sequence Variant
cellular tumor antigen p53 isoform e NP_001119588.1:p.Arg150Gly R (Arg) > G (Gly) Missense Variant
TP53 transcript variant 7 NM_001126117.1:c.448C>T R [CGG] > W [TGG] Coding Sequence Variant
cellular tumor antigen p53 isoform f NP_001119589.1:p.Arg150Trp R (Arg) > W (Trp) Missense Variant
TP53 transcript variant 7 NM_001126117.1:c.448C>G R [CGG] > G [GGG] Coding Sequence Variant
cellular tumor antigen p53 isoform f NP_001119589.1:p.Arg150Gly R (Arg) > G (Gly) Missense Variant
TP53 transcript variant 1 NM_000546.5:c.844C>T R [CGG] > W [TGG] Coding Sequence Variant
cellular tumor antigen p53 isoform a NP_000537.3:p.Arg282Trp R (Arg) > W (Trp) Missense Variant
TP53 transcript variant 1 NM_000546.5:c.844C>G R [CGG] > G [GGG] Coding Sequence Variant
cellular tumor antigen p53 isoform a NP_000537.3:p.Arg282Gly R (Arg) > G (Gly) Missense Variant
TP53 transcript variant 2 NM_001126112.2:c.844C>T R [CGG] > W [TGG] Coding Sequence Variant
cellular tumor antigen p53 isoform a NP_001119584.1:p.Arg282Trp R (Arg) > W (Trp) Missense Variant
TP53 transcript variant 2 NM_001126112.2:c.844C>G R [CGG] > G [GGG] Coding Sequence Variant
cellular tumor antigen p53 isoform a NP_001119584.1:p.Arg282Gly R (Arg) > G (Gly) Missense Variant
TP53 transcript variant 4 NM_001126113.2:c.844C>T R [CGG] > W [TGG] Coding Sequence Variant
cellular tumor antigen p53 isoform c NP_001119585.1:p.Arg282Trp R (Arg) > W (Trp) Missense Variant
TP53 transcript variant 4 NM_001126113.2:c.844C>G R [CGG] > G [GGG] Coding Sequence Variant
cellular tumor antigen p53 isoform c NP_001119585.1:p.Arg282Gly R (Arg) > G (Gly) Missense Variant
TP53 transcript variant 3 NM_001126114.2:c.844C>T R [CGG] > W [TGG] Coding Sequence Variant
cellular tumor antigen p53 isoform b NP_001119586.1:p.Arg282Trp R (Arg) > W (Trp) Missense Variant
TP53 transcript variant 3 NM_001126114.2:c.844C>G R [CGG] > G [GGG] Coding Sequence Variant
cellular tumor antigen p53 isoform b NP_001119586.1:p.Arg282Gly R (Arg) > G (Gly) Missense Variant
TP53 transcript variant 8 NM_001126118.1:c.727C>T R [CGG] > W [TGG] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001119590.1:p.Arg243Trp R (Arg) > W (Trp) Missense Variant
TP53 transcript variant 8 NM_001126118.1:c.727C>G R [CGG] > G [GGG] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001119590.1:p.Arg243Gly R (Arg) > G (Gly) Missense Variant
TP53 transcript variant 1 NM_001276760.1:c.727C>T R [CGG] > W [TGG] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001263689.1:p.Arg243Trp R (Arg) > W (Trp) Missense Variant
TP53 transcript variant 1 NM_001276760.1:c.727C>G R [CGG] > G [GGG] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001263689.1:p.Arg243Gly R (Arg) > G (Gly) Missense Variant
TP53 transcript variant 2 NM_001276761.1:c.727C>T R [CGG] > W [TGG] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001263690.1:p.Arg243Trp R (Arg) > W (Trp) Missense Variant
TP53 transcript variant 2 NM_001276761.1:c.727C>G R [CGG] > G [GGG] Coding Sequence Variant
cellular tumor antigen p53 isoform g NP_001263690.1:p.Arg243Gly R (Arg) > G (Gly) Missense Variant
TP53 transcript variant 4 NM_001276695.1:c.727C>T R [CGG] > W [TGG] Coding Sequence Variant
cellular tumor antigen p53 isoform h NP_001263624.1:p.Arg243Trp R (Arg) > W (Trp) Missense Variant
TP53 transcript variant 4 NM_001276695.1:c.727C>G R [CGG] > G [GGG] Coding Sequence Variant
cellular tumor antigen p53 isoform h NP_001263624.1:p.Arg243Gly R (Arg) > G (Gly) Missense Variant
TP53 transcript variant 3 NM_001276696.1:c.727C>T R [CGG] > W [TGG] Coding Sequence Variant
cellular tumor antigen p53 isoform i NP_001263625.1:p.Arg243Trp R (Arg) > W (Trp) Missense Variant
TP53 transcript variant 3 NM_001276696.1:c.727C>G R [CGG] > G [GGG] Coding Sequence Variant
cellular tumor antigen p53 isoform i NP_001263625.1:p.Arg243Gly R (Arg) > G (Gly) Missense Variant
TP53 transcript variant 5 NM_001276697.1:c.367C>T R [CGG] > W [TGG] Coding Sequence Variant
cellular tumor antigen p53 isoform j NP_001263626.1:p.Arg123Trp R (Arg) > W (Trp) Missense Variant
TP53 transcript variant 5 NM_001276697.1:c.367C>G R [CGG] > G [GGG] Coding Sequence Variant
cellular tumor antigen p53 isoform j NP_001263626.1:p.Arg123Gly R (Arg) > G (Gly) Missense Variant
TP53 transcript variant 6 NM_001276698.1:c.367C>T R [CGG] > W [TGG] Coding Sequence Variant
cellular tumor antigen p53 isoform k NP_001263627.1:p.Arg123Trp R (Arg) > W (Trp) Missense Variant
TP53 transcript variant 6 NM_001276698.1:c.367C>G R [CGG] > G [GGG] Coding Sequence Variant
cellular tumor antigen p53 isoform k NP_001263627.1:p.Arg123Gly R (Arg) > G (Gly) Missense Variant
TP53 transcript variant 7 NM_001276699.1:c.367C>T R [CGG] > W [TGG] Coding Sequence Variant
cellular tumor antigen p53 isoform l NP_001263628.1:p.Arg123Trp R (Arg) > W (Trp) Missense Variant
TP53 transcript variant 7 NM_001276699.1:c.367C>G R [CGG] > G [GGG] Coding Sequence Variant
cellular tumor antigen p53 isoform l NP_001263628.1:p.Arg123Gly R (Arg) > G (Gly) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: A (allele ID: 27403 )
ClinVar Accession Disease Names Clinical Significance
RCV000013161.22 Li-Fraumeni-like syndrome Pathogenic
RCV000144670.3 Li-Fraumeni syndrome 1 Pathogenic
RCV000148905.8 Li-Fraumeni syndrome Pathogenic
RCV000210145.3 Hereditary cancer-predisposing syndrome Pathogenic
RCV000236400.4 not provided Pathogenic
RCV000417906.1 Non-Hodgkin lymphoma Likely-Pathogenic
RCV000420798.1 Malignant melanoma of skin Likely-Pathogenic
RCV000422920.1 Glioblastoma Likely-Pathogenic
RCV000423580.1 Squamous cell lung carcinoma Likely-Pathogenic
RCV000424430.1 Squamous cell carcinoma of the skin Likely-Pathogenic
RCV000425909.1 Ovarian Serous Cystadenocarcinoma Likely-Pathogenic
RCV000426680.1 Adenocarcinoma of prostate Likely-Pathogenic
RCV000430759.1 Neoplasm of the large intestine Likely-Pathogenic
RCV000431084.1 Hepatocellular carcinoma Likely-Pathogenic
RCV000432561.1 Transitional cell carcinoma of the bladder Likely-Pathogenic
RCV000433225.1 Neoplasm of the breast Likely-Pathogenic
RCV000434706.1 Pancreatic adenocarcinoma Likely-Pathogenic
RCV000435581.1 Adenocarcinoma of stomach Likely-Pathogenic
RCV000436175.1 Carcinoma of esophagus Likely-Pathogenic
RCV000437607.1 Lung adenocarcinoma Likely-Pathogenic
RCV000441472.1 Squamous cell carcinoma of the head and neck Likely-Pathogenic
RCV000442231.1 Renal cell carcinoma, papillary, 1 Likely-Pathogenic
RCV000444544.1 Neoplasm of brain Likely-Pathogenic
RCV000444687.1 Malignant neoplasm of body of uterus Likely-Pathogenic
Allele: C (allele ID: 150535 )
ClinVar Accession Disease Names Clinical Significance
RCV000129010.3 Hereditary cancer-predisposing syndrome Pathogenic
RCV000419333.1 Non-Hodgkin lymphoma Likely-Pathogenic
RCV000419993.1 Neoplasm of brain Likely-Pathogenic
RCV000422134.1 Lung adenocarcinoma Likely-Pathogenic
RCV000422367.1 Pancreatic adenocarcinoma Likely-Pathogenic
RCV000422747.1 Carcinoma of esophagus Likely-Pathogenic
RCV000425179.1 Glioblastoma Likely-Pathogenic
RCV000427647.1 Hepatocellular carcinoma Likely-Pathogenic
RCV000430047.1 Adenocarcinoma of prostate Likely-Pathogenic
RCV000430393.1 Malignant neoplasm of body of uterus Likely-Pathogenic
RCV000431764.1 Adenocarcinoma of stomach Likely-Pathogenic
RCV000432433.1 Squamous cell lung carcinoma Likely-Pathogenic
RCV000435503.1 Squamous cell carcinoma of the skin Likely-Pathogenic
RCV000437219.1 Neoplasm of the breast Likely-Pathogenic
RCV000437895.1 Transitional cell carcinoma of the bladder Likely-Pathogenic
RCV000440446.1 Malignant melanoma of skin Likely-Pathogenic
RCV000440653.1 Renal cell carcinoma, papillary, 1 Likely-Pathogenic
RCV000442540.1 Squamous cell carcinoma of the head and neck Likely-Pathogenic
RCV000442627.1 Ovarian Serous Cystadenocarcinoma Likely-Pathogenic
RCV000445294.1 Neoplasm of the large intestine Likely-Pathogenic
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 246198 G=1.00000 A=0.00000
gnomAD - Exomes European Sub 133974 G=0.99999 A=0.00001
gnomAD - Exomes Asian Sub 48020 G=1.0000 A=0.0000
gnomAD - Exomes American Sub 33578 G=1.0000 A=0.0000
gnomAD - Exomes African Sub 15300 G=1.0000 A=0.0000
gnomAD - Exomes Ashkenazi Jewish Sub 9848 G=1.000 A=0.000
gnomAD - Exomes Other Sub 5478 G=1.000 A=0.000
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A C Note
GRCh38.p12 chr 17 NC_000017.11:g.76...

NC_000017.11:g.7673776G=

NC_000017.11:g.76...

NC_000017.11:g.7673776G>A

NC_000017.11:g.76...

NC_000017.11:g.7673776G>C

GRCh37.p13 chr 17 NC_000017.10:g.75...

NC_000017.10:g.7577094G=

NC_000017.10:g.75...

NC_000017.10:g.7577094G>A

NC_000017.10:g.75...

NC_000017.10:g.7577094G>C

TP53 RefSeqGene (LRG_321) NG_017013.2:g.187...

NG_017013.2:g.18775C=

NG_017013.2:g.187...

NG_017013.2:g.18775C>T

NG_017013.2:g.187...

NG_017013.2:g.18775C>G

TP53 transcript variant 1 NM_000546.5:c.844C= NM_000546.5:c.844C>T NM_000546.5:c.844C>G
TP53 transcript variant 3 NM_001126114.2:c....

NM_001126114.2:c.844C=

NM_001126114.2:c....

NM_001126114.2:c.844C>T

NM_001126114.2:c....

NM_001126114.2:c.844C>G

TP53 transcript variant 4 NM_001126113.2:c....

NM_001126113.2:c.844C=

NM_001126113.2:c....

NM_001126113.2:c.844C>T

NM_001126113.2:c....

NM_001126113.2:c.844C>G

TP53 transcript variant 2 NM_001126112.2:c....

NM_001126112.2:c.844C=

NM_001126112.2:c....

NM_001126112.2:c.844C>T

NM_001126112.2:c....

NM_001126112.2:c.844C>G

TP53 transcript variant 3 NM_001276696.1:c....

NM_001276696.1:c.727C=

NM_001276696.1:c....

NM_001276696.1:c.727C>T

NM_001276696.1:c....

NM_001276696.1:c.727C>G

TP53 transcript variant 8 NM_001126118.1:c....

NM_001126118.1:c.727C=

NM_001126118.1:c....

NM_001126118.1:c.727C>T

NM_001126118.1:c....

NM_001126118.1:c.727C>G

TP53 transcript variant 4 NM_001276695.1:c....

NM_001276695.1:c.727C=

NM_001276695.1:c....

NM_001276695.1:c.727C>T

NM_001276695.1:c....

NM_001276695.1:c.727C>G

TP53 transcript variant 1 NM_001276760.1:c....

NM_001276760.1:c.727C=

NM_001276760.1:c....

NM_001276760.1:c.727C>T

NM_001276760.1:c....

NM_001276760.1:c.727C>G

TP53 transcript variant 2 NM_001276761.1:c....

NM_001276761.1:c.727C=

NM_001276761.1:c....

NM_001276761.1:c.727C>T

NM_001276761.1:c....

NM_001276761.1:c.727C>G

TP53 transcript variant 6 NM_001276698.1:c....

NM_001276698.1:c.367C=

NM_001276698.1:c....

NM_001276698.1:c.367C>T

NM_001276698.1:c....

NM_001276698.1:c.367C>G

TP53 transcript variant 6 NM_001126116.1:c....

NM_001126116.1:c.448C=

NM_001126116.1:c....

NM_001126116.1:c.448C>T

NM_001126116.1:c....

NM_001126116.1:c.448C>G

TP53 transcript variant 7 NM_001276699.1:c....

NM_001276699.1:c.367C=

NM_001276699.1:c....

NM_001276699.1:c.367C>T

NM_001276699.1:c....

NM_001276699.1:c.367C>G

TP53 transcript variant 7 NM_001126117.1:c....

NM_001126117.1:c.448C=

NM_001126117.1:c....

NM_001126117.1:c.448C>T

NM_001126117.1:c....

NM_001126117.1:c.448C>G

TP53 transcript variant 5 NM_001276697.1:c....

NM_001276697.1:c.367C=

NM_001276697.1:c....

NM_001276697.1:c.367C>T

NM_001276697.1:c....

NM_001276697.1:c.367C>G

TP53 transcript variant 5 NM_001126115.1:c....

NM_001126115.1:c.448C=

NM_001126115.1:c....

NM_001126115.1:c.448C>T

NM_001126115.1:c....

NM_001126115.1:c.448C>G

cellular tumor antigen p53 isoform a NP_000537.3:p.Arg...

NP_000537.3:p.Arg282=

NP_000537.3:p.Arg...

NP_000537.3:p.Arg282Trp

NP_000537.3:p.Arg...

NP_000537.3:p.Arg282Gly

cellular tumor antigen p53 isoform b NP_001119586.1:p....

NP_001119586.1:p.Arg282=

NP_001119586.1:p....

NP_001119586.1:p.Arg282Trp

NP_001119586.1:p....

NP_001119586.1:p.Arg282Gly

cellular tumor antigen p53 isoform c NP_001119585.1:p....

NP_001119585.1:p.Arg282=

NP_001119585.1:p....

NP_001119585.1:p.Arg282Trp

NP_001119585.1:p....

NP_001119585.1:p.Arg282Gly

cellular tumor antigen p53 isoform a NP_001119584.1:p....

NP_001119584.1:p.Arg282=

NP_001119584.1:p....

NP_001119584.1:p.Arg282Trp

NP_001119584.1:p....

NP_001119584.1:p.Arg282Gly

cellular tumor antigen p53 isoform i NP_001263625.1:p....

NP_001263625.1:p.Arg243=

NP_001263625.1:p....

NP_001263625.1:p.Arg243Trp

NP_001263625.1:p....

NP_001263625.1:p.Arg243Gly

cellular tumor antigen p53 isoform g NP_001119590.1:p....

NP_001119590.1:p.Arg243=

NP_001119590.1:p....

NP_001119590.1:p.Arg243Trp

NP_001119590.1:p....

NP_001119590.1:p.Arg243Gly

cellular tumor antigen p53 isoform h NP_001263624.1:p....

NP_001263624.1:p.Arg243=

NP_001263624.1:p....

NP_001263624.1:p.Arg243Trp

NP_001263624.1:p....

NP_001263624.1:p.Arg243Gly

cellular tumor antigen p53 isoform g NP_001263689.1:p....

NP_001263689.1:p.Arg243=

NP_001263689.1:p....

NP_001263689.1:p.Arg243Trp

NP_001263689.1:p....

NP_001263689.1:p.Arg243Gly

cellular tumor antigen p53 isoform g NP_001263690.1:p....

NP_001263690.1:p.Arg243=

NP_001263690.1:p....

NP_001263690.1:p.Arg243Trp

NP_001263690.1:p....

NP_001263690.1:p.Arg243Gly

cellular tumor antigen p53 isoform k NP_001263627.1:p....

NP_001263627.1:p.Arg123=

NP_001263627.1:p....

NP_001263627.1:p.Arg123Trp

NP_001263627.1:p....

NP_001263627.1:p.Arg123Gly

cellular tumor antigen p53 isoform e NP_001119588.1:p....

NP_001119588.1:p.Arg150=

NP_001119588.1:p....

NP_001119588.1:p.Arg150Trp

NP_001119588.1:p....

NP_001119588.1:p.Arg150Gly

cellular tumor antigen p53 isoform l NP_001263628.1:p....

NP_001263628.1:p.Arg123=

NP_001263628.1:p....

NP_001263628.1:p.Arg123Trp

NP_001263628.1:p....

NP_001263628.1:p.Arg123Gly

cellular tumor antigen p53 isoform f NP_001119589.1:p....

NP_001119589.1:p.Arg150=

NP_001119589.1:p....

NP_001119589.1:p.Arg150Trp

NP_001119589.1:p....

NP_001119589.1:p.Arg150Gly

cellular tumor antigen p53 isoform j NP_001263626.1:p....

NP_001263626.1:p.Arg123=

NP_001263626.1:p....

NP_001263626.1:p.Arg123Trp

NP_001263626.1:p....

NP_001263626.1:p.Arg123Gly

cellular tumor antigen p53 isoform d NP_001119587.1:p....

NP_001119587.1:p.Arg150=

NP_001119587.1:p....

NP_001119587.1:p.Arg150Trp

NP_001119587.1:p....

NP_001119587.1:p.Arg150Gly

Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

44 ClinVar, 9 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 OMIM-CURATED-RECORDS ss275513812 Nov 22, 2010 (133)
2 OMICIA ss275516326 Aug 29, 2012 (137)
3 PJP ss292010361 May 09, 2011 (134)
4 NHLBI-ESP ss713356626 Apr 25, 2013 (138)
5 CLINVAR ss1457619697 Nov 23, 2014 (142)
6 EVA_EXAC ss1692579703 Apr 01, 2015 (144)
7 YSAMUELS ss1849912990 Feb 12, 2016 (147)
8 HUMAN_LONGEVITY ss2215319526 Dec 20, 2016 (150)
9 GNOMAD ss2742410266 Nov 08, 2017 (151)
10 ExAC NC_000017.10 - 7577094 Oct 12, 2018 (152)
11 gnomAD - Exomes NC_000017.10 - 7577094 Oct 12, 2018 (152)
12 ClinVar RCV000013161.22 Oct 12, 2018 (152)
13 ClinVar RCV000129010.3 Oct 12, 2018 (152)
14 ClinVar RCV000144670.3 Oct 12, 2018 (152)
15 ClinVar RCV000148905.8 Oct 12, 2018 (152)
16 ClinVar RCV000210145.3 Oct 12, 2018 (152)
17 ClinVar RCV000236400.4 Oct 12, 2018 (152)
18 ClinVar RCV000417906.1 Oct 12, 2018 (152)
19 ClinVar RCV000419333.1 Oct 12, 2018 (152)
20 ClinVar RCV000419993.1 Oct 12, 2018 (152)
21 ClinVar RCV000420798.1 Oct 12, 2018 (152)
22 ClinVar RCV000422134.1 Oct 12, 2018 (152)
23 ClinVar RCV000422367.1 Oct 12, 2018 (152)
24 ClinVar RCV000422747.1 Oct 12, 2018 (152)
25 ClinVar RCV000422920.1 Oct 12, 2018 (152)
26 ClinVar RCV000423580.1 Oct 12, 2018 (152)
27 ClinVar RCV000424430.1 Oct 12, 2018 (152)
28 ClinVar RCV000425179.1 Oct 12, 2018 (152)
29 ClinVar RCV000425909.1 Oct 12, 2018 (152)
30 ClinVar RCV000426680.1 Oct 12, 2018 (152)
31 ClinVar RCV000427647.1 Oct 12, 2018 (152)
32 ClinVar RCV000430047.1 Oct 12, 2018 (152)
33 ClinVar RCV000430393.1 Oct 12, 2018 (152)
34 ClinVar RCV000430759.1 Oct 12, 2018 (152)
35 ClinVar RCV000431084.1 Oct 12, 2018 (152)
36 ClinVar RCV000431764.1 Oct 12, 2018 (152)
37 ClinVar RCV000432433.1 Oct 12, 2018 (152)
38 ClinVar RCV000432561.1 Oct 12, 2018 (152)
39 ClinVar RCV000433225.1 Oct 12, 2018 (152)
40 ClinVar RCV000434706.1 Oct 12, 2018 (152)
41 ClinVar RCV000435503.1 Oct 12, 2018 (152)
42 ClinVar RCV000435581.1 Oct 12, 2018 (152)
43 ClinVar RCV000436175.1 Oct 12, 2018 (152)
44 ClinVar RCV000437219.1 Oct 12, 2018 (152)
45 ClinVar RCV000437607.1 Oct 12, 2018 (152)
46 ClinVar RCV000437895.1 Oct 12, 2018 (152)
47 ClinVar RCV000440446.1 Oct 12, 2018 (152)
48 ClinVar RCV000440653.1 Oct 12, 2018 (152)
49 ClinVar RCV000441472.1 Oct 12, 2018 (152)
50 ClinVar RCV000442231.1 Oct 12, 2018 (152)
51 ClinVar RCV000442540.1 Oct 12, 2018 (152)
52 ClinVar RCV000442627.1 Oct 12, 2018 (152)
53 ClinVar RCV000444544.1 Oct 12, 2018 (152)
54 ClinVar RCV000444687.1 Oct 12, 2018 (152)
55 ClinVar RCV000445294.1 Oct 12, 2018 (152)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss292010361 NC_000017.9:7517818:G= NC_000017.11:7673775:G= (self)
3007469, 9224135, ss713356626, ss1692579703, ss1849912990, ss2742410266 NC_000017.10:7577093:G= NC_000017.11:7673775:G= (self)
ss275513812, ss275516326, ss1457619697, ss2215319526 NC_000017.11:7673775:G= NC_000017.11:7673775:G= (self)
ss292010361 NC_000017.9:7517818:G>A NC_000017.11:7673775:G>A (self)
3007469, 9224135, ss713356626, ss1692579703, ss2742410266 NC_000017.10:7577093:G>A NC_000017.11:7673775:G>A (self)
RCV000013161.22, RCV000144670.3, RCV000148905.8, RCV000210145.3, RCV000236400.4, RCV000417906.1, RCV000420798.1, RCV000422920.1, RCV000423580.1, RCV000424430.1, RCV000425909.1, RCV000426680.1, RCV000430759.1, RCV000431084.1, RCV000432561.1, RCV000433225.1, RCV000434706.1, RCV000435581.1, RCV000436175.1, RCV000437607.1, RCV000441472.1, RCV000442231.1, RCV000444544.1, RCV000444687.1, ss275513812, ss275516326, ss2215319526 NC_000017.11:7673775:G>A NC_000017.11:7673775:G>A (self)
ss1849912990 NC_000017.10:7577093:G>C NC_000017.11:7673775:G>C (self)
RCV000129010.3, RCV000419333.1, RCV000419993.1, RCV000422134.1, RCV000422367.1, RCV000422747.1, RCV000425179.1, RCV000427647.1, RCV000430047.1, RCV000430393.1, RCV000431764.1, RCV000432433.1, RCV000435503.1, RCV000437219.1, RCV000437895.1, RCV000440446.1, RCV000440653.1, RCV000442540.1, RCV000442627.1, RCV000445294.1, ss1457619697 NC_000017.11:7673775:G>C NC_000017.11:7673775:G>C (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

22 citations for rs28934574
PMID Title Author Year Journal
1349175 Germ-line and somatic p53 gene mutations in multifocal osteogenic sarcoma. Iavarone A et al. 1992 Proceedings of the National Academy of Sciences of the United States of America
1565143 Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. Toguchida J et al. 1992 The New England journal of medicine
1565144 Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. Malkin D et al. 1992 The New England journal of medicine
8401536 Screening for TP53 mutations in osteosarcomas using constant denaturant gel electrophoresis (CDGE). Smith-Sørensen B et al. 1993 Human mutation
8718514 Germline mutations in the TP53 gene. Eeles RA et al. 1995 Cancer surveys
8829627 Molecular analysis of the TP53 gene in Barrett's adenocarcinoma. Audrézet MP et al. 1996 Human mutation
11370630 Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome. Bougeard G et al. 2001 Journal of medical genetics
17606709 Transcriptional functionality of germ line p53 mutants influences cancer phenotype. Monti P et al. 2007 Clinical cancer research
19012332 Somatic TP53 mutation mosaicism in a patient with Li-Fraumeni syndrome. Prochazkova K et al. 2009 American journal of medical genetics. Part A
19468865 TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset. Pinto C et al. 2009 Familial cancer
21059199 Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome. Heymann S et al. 2010 Radiation oncology (London, England)
21305319 Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome. Wu CC et al. 2011 Human genetics
21761402 Early onset HER2-positive breast cancer is associated with germline TP53 mutations. Melhem-Bertrandt A et al. 2012 Cancer
23161690 The TP53 website: an integrative resource centre for the TP53 mutation database and TP53 mutant analysis. Leroy B et al. 2013 Nucleic acids research
25105660 Computational screening and molecular dynamic simulation of breast cancer associated deleterious non-synonymous single nucleotide polymorphisms in TP53 gene. Chitrala KN et al. 2014 PloS one
25584008 Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study. Wasserman JD et al. 2015 Journal of clinical oncology
25619955 Candidate gene analysis of BRCA1/2 mutation-negative high-risk Russian breast cancer patients. Sokolenko AP et al. 2015 Cancer letters
25925845 Germline TP53 mutational spectrum in French Canadians with breast cancer. Arcand SL et al. 2015 BMC medical genetics
26619011 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. Chang MT et al. 2016 Nature biotechnology
26845104 Improving performance of multigene panels for genomic analysis of cancer predisposition. Shirts BH et al. 2016 Genetics in medicine
26878390 Gain of function of mutant p53: R282W on the peak? Zhang Y et al. 2016 Oncogenesis
26900293 Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients. Chang YC et al. 2016 World journal of gastroenterology

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post22+136462e