dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
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.
rs398123995
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chrX:32343202 (GRCh38.p14) 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
- T>A
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
None
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- DMD : Stop Gained
- Publications
- 1 citation
- Genomic View
- See rs on genome
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").
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.
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr X | NC_000023.11:g.32343202T>A |
| GRCh37.p13 chr X | NC_000023.10:g.32361319T>A |
| DMD RefSeqGene (LRG_199) | NG_012232.1:g.1001408A>T |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| DMD transcript variant Dp140 | NM_004013.3:c. | N/A | Genic Upstream Transcript Variant |
| DMD transcript variant Dp116 | NM_004014.3:c. | N/A | Genic Upstream Transcript Variant |
| DMD transcript variant Dp71 | NM_004015.3:c. | N/A | Genic Upstream Transcript Variant |
| DMD transcript variant Dp71b | NM_004016.3:c. | N/A | Genic Upstream Transcript Variant |
| DMD transcript variant Dp71a | NM_004017.3:c. | N/A | Genic Upstream Transcript Variant |
| DMD transcript variant Dp71ab | NM_004018.3:c. | N/A | Genic Upstream Transcript Variant |
| DMD transcript variant Dp40 | NM_004019.3:c. | N/A | Genic Upstream Transcript Variant |
| DMD transcript variant Dp140c | NM_004020.4:c. | N/A | Genic Upstream Transcript Variant |
| DMD transcript variant Dp140b | NM_004021.3:c. | N/A | Genic Upstream Transcript Variant |
| DMD transcript variant D140ab | NM_004022.3:c. | N/A | Genic Upstream Transcript Variant |
| DMD transcript variant Dp140bc | NM_004023.3:c. | N/A | Genic Upstream Transcript Variant |
| DMD transcript variant Dp427p1 | NM_004009.3:c.5659A>T | K [AAA] > * [TAA] | Coding Sequence Variant |
| dystrophin isoform Dp427p1 | NP_004000.1:p.Lys1887Ter | K (Lys) > * (Ter) | Stop Gained |
| DMD transcript variant Dp427p2 | NM_004010.3:c.5302A>T | K [AAA] > * [TAA] | Coding Sequence Variant |
| dystrophin isoform Dp427p2 | NP_004001.1:p.Lys1768Ter | K (Lys) > * (Ter) | Stop Gained |
| DMD transcript variant Dp260-1 | NM_004011.4:c.1648A>T | K [AAA] > * [TAA] | Coding Sequence Variant |
| dystrophin isoform Dp260-1 | NP_004002.3:p.Lys550Ter | K (Lys) > * (Ter) | Stop Gained |
| DMD transcript variant Dp260-2 | NM_004012.4:c.1639A>T | K [AAA] > * [TAA] | Coding Sequence Variant |
| dystrophin isoform Dp260-2 | NP_004003.2:p.Lys547Ter | K (Lys) > * (Ter) | Stop Gained |
| DMD transcript variant Dp427c | NM_000109.4:c.5647A>T | K [AAA] > * [TAA] | Coding Sequence Variant |
| dystrophin isoform Dp427c | NP_000100.3:p.Lys1883Ter | K (Lys) > * (Ter) | Stop Gained |
| DMD transcript variant Dp427m | NM_004006.3:c.5671A>T | K [AAA] > * [TAA] | Coding Sequence Variant |
| dystrophin isoform Dp427m | NP_003997.2:p.Lys1891Ter | K (Lys) > * (Ter) | Stop Gained |
| DMD transcript variant X1 | XM_006724468.3:c.5671A>T | K [AAA] > * [TAA] | Coding Sequence Variant |
| dystrophin isoform X1 |
XP_006724531.1:p.Lys1891T… XP_006724531.1:p.Lys1891Ter |
K (Lys) > * (Ter) | Stop Gained |
| DMD transcript variant X2 | XM_006724469.4:c.5647A>T | K [AAA] > * [TAA] | Coding Sequence Variant |
| dystrophin isoform X2 |
XP_006724532.1:p.Lys1883T… XP_006724532.1:p.Lys1883Ter |
K (Lys) > * (Ter) | Stop Gained |
| DMD transcript variant X3 | XM_006724470.4:c.5671A>T | K [AAA] > * [TAA] | Coding Sequence Variant |
| dystrophin isoform X3 |
XP_006724533.1:p.Lys1891T… XP_006724533.1:p.Lys1891Ter |
K (Lys) > * (Ter) | Stop Gained |
| DMD transcript variant X4 | XM_017029328.2:c.5671A>T | K [AAA] > * [TAA] | Coding Sequence Variant |
| dystrophin isoform X4 |
XP_016884817.1:p.Lys1891T… XP_016884817.1:p.Lys1891Ter |
K (Lys) > * (Ter) | Stop Gained |
| DMD transcript variant X5 | XM_011545467.2:c.5548A>T | K [AAA] > * [TAA] | Coding Sequence Variant |
| dystrophin isoform X5 |
XP_011543769.1:p.Lys1850T… XP_011543769.1:p.Lys1850Ter |
K (Lys) > * (Ter) | Stop Gained |
| DMD transcript variant X6 | XM_006724473.3:c.5533A>T | K [AAA] > * [TAA] | Coding Sequence Variant |
| dystrophin isoform X6 |
XP_006724536.1:p.Lys1845T… XP_006724536.1:p.Lys1845Ter |
K (Lys) > * (Ter) | Stop Gained |
| DMD transcript variant X7 | XM_006724474.4:c.5671A>T | K [AAA] > * [TAA] | Coding Sequence Variant |
| dystrophin isoform X7 |
XP_006724537.1:p.Lys1891T… XP_006724537.1:p.Lys1891Ter |
K (Lys) > * (Ter) | Stop Gained |
| DMD transcript variant X8 | XM_006724475.3:c.5671A>T | K [AAA] > * [TAA] | Coding Sequence Variant |
| dystrophin isoform X8 |
XP_006724538.1:p.Lys1891T… XP_006724538.1:p.Lys1891Ter |
K (Lys) > * (Ter) | Stop Gained |
| DMD transcript variant X9 | XM_011545468.3:c.5671A>T | K [AAA] > * [TAA] | Coding Sequence Variant |
| dystrophin isoform X9 |
XP_011543770.1:p.Lys1891T… XP_011543770.1:p.Lys1891Ter |
K (Lys) > * (Ter) | Stop Gained |
| DMD transcript variant X10 | XM_017029329.2:c.5671A>T | K [AAA] > * [TAA] | Coding Sequence Variant |
| dystrophin isoform X10 |
XP_016884818.1:p.Lys1891T… XP_016884818.1:p.Lys1891Ter |
K (Lys) > * (Ter) | Stop Gained |
| DMD transcript variant X11 | XM_017029330.3:c.5671A>T | K [AAA] > * [TAA] | Coding Sequence Variant |
| dystrophin isoform X11 |
XP_016884819.1:p.Lys1891T… XP_016884819.1:p.Lys1891Ter |
K (Lys) > * (Ter) | Stop Gained |
| DMD transcript variant X12 | XM_011545469.2:c.5671A>T | K [AAA] > * [TAA] | Coding Sequence Variant |
| dystrophin isoform X12 |
XP_011543771.1:p.Lys1891T… XP_011543771.1:p.Lys1891Ter |
K (Lys) > * (Ter) | Stop Gained |
| DMD transcript variant X13 | XM_047441889.1:c.5548A>T | K [AAA] > * [TAA] | Coding Sequence Variant |
| dystrophin isoform X13 |
XP_047297845.1:p.Lys1850T… XP_047297845.1:p.Lys1850Ter |
K (Lys) > * (Ter) | Stop Gained |
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.
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 | T= | A |
|---|---|---|
| GRCh38.p14 chr X | NC_000023.11:g.32343202= | NC_000023.11:g.32343202T>A |
| GRCh37.p13 chr X | NC_000023.10:g.32361319= | NC_000023.10:g.32361319T>A |
| DMD RefSeqGene (LRG_199) | NG_012232.1:g.1001408= | NG_012232.1:g.1001408A>T |
| DMD transcript variant Dp427c | NM_000109.4:c.5647= | NM_000109.4:c.5647A>T |
| DMD transcript variant Dp427c | NM_000109.3:c.5647= | NM_000109.3:c.5647A>T |
| DMD transcript variant Dp260-2 | NM_004012.4:c.1639= | NM_004012.4:c.1639A>T |
| DMD transcript variant Dp260-2 | NM_004012.3:c.1639= | NM_004012.3:c.1639A>T |
| DMD transcript variant Dp260-1 | NM_004011.4:c.1648= | NM_004011.4:c.1648A>T |
| DMD transcript variant Dp260-1 | NM_004011.3:c.1648= | NM_004011.3:c.1648A>T |
| DMD transcript variant Dp427p2 | NM_004010.3:c.5302= | NM_004010.3:c.5302A>T |
| DMD transcript variant Dp427p1 | NM_004009.3:c.5659= | NM_004009.3:c.5659A>T |
| DMD transcript variant Dp427m | NM_004006.3:c.5671= | NM_004006.3:c.5671A>T |
| DMD transcript variant Dp427m | NM_004006.2:c.5671= | NM_004006.2:c.5671A>T |
| DMD transcript variant X3 | XM_006724470.4:c.5671= | XM_006724470.4:c.5671A>T |
| DMD transcript variant X3 | XM_006724470.3:c.5671= | XM_006724470.3:c.5671A>T |
| DMD transcript variant X3 | XM_006724470.2:c.5671= | XM_006724470.2:c.5671A>T |
| DMD transcript variant X3 | XM_006724470.1:c.5671= | XM_006724470.1:c.5671A>T |
| DMD transcript variant X2 | XM_006724469.4:c.5647= | XM_006724469.4:c.5647A>T |
| DMD transcript variant X2 | XM_006724469.3:c.5647= | XM_006724469.3:c.5647A>T |
| DMD transcript variant X2 | XM_006724469.2:c.5647= | XM_006724469.2:c.5647A>T |
| DMD transcript variant X2 | XM_006724469.1:c.5647= | XM_006724469.1:c.5647A>T |
| DMD transcript variant X7 | XM_006724474.4:c.5671= | XM_006724474.4:c.5671A>T |
| DMD transcript variant X7 | XM_006724474.3:c.5671= | XM_006724474.3:c.5671A>T |
| DMD transcript variant X8 | XM_006724474.2:c.5671= | XM_006724474.2:c.5671A>T |
| DMD transcript variant X7 | XM_006724474.1:c.5671= | XM_006724474.1:c.5671A>T |
| DMD transcript variant X1 | XM_006724468.3:c.5671= | XM_006724468.3:c.5671A>T |
| DMD transcript variant X1 | XM_006724468.2:c.5671= | XM_006724468.2:c.5671A>T |
| DMD transcript variant X1 | XM_006724468.1:c.5671= | XM_006724468.1:c.5671A>T |
| DMD transcript variant X6 | XM_006724473.3:c.5533= | XM_006724473.3:c.5533A>T |
| DMD transcript variant X6 | XM_006724473.2:c.5533= | XM_006724473.2:c.5533A>T |
| DMD transcript variant X6 | XM_006724473.1:c.5533= | XM_006724473.1:c.5533A>T |
| DMD transcript variant X8 | XM_006724475.3:c.5671= | XM_006724475.3:c.5671A>T |
| DMD transcript variant X8 | XM_006724475.2:c.5671= | XM_006724475.2:c.5671A>T |
| DMD transcript variant X8 | XM_006724475.1:c.5671= | XM_006724475.1:c.5671A>T |
| DMD transcript variant X11 | XM_017029330.3:c.5671= | XM_017029330.3:c.5671A>T |
| DMD transcript variant X11 | XM_017029330.2:c.5671= | XM_017029330.2:c.5671A>T |
| DMD transcript variant X11 | XM_017029330.1:c.5671= | XM_017029330.1:c.5671A>T |
| DMD transcript variant X9 | XM_011545468.3:c.5671= | XM_011545468.3:c.5671A>T |
| DMD transcript variant X9 | XM_011545468.2:c.5671= | XM_011545468.2:c.5671A>T |
| DMD transcript variant X10 | XM_011545468.1:c.5671= | XM_011545468.1:c.5671A>T |
| DMD transcript variant X4 | XM_017029328.2:c.5671= | XM_017029328.2:c.5671A>T |
| DMD transcript variant X4 | XM_017029328.1:c.5671= | XM_017029328.1:c.5671A>T |
| DMD transcript variant X5 | XM_011545467.2:c.5548= | XM_011545467.2:c.5548A>T |
| DMD transcript variant X5 | XM_011545467.1:c.5548= | XM_011545467.1:c.5548A>T |
| DMD transcript variant X10 | XM_017029329.2:c.5671= | XM_017029329.2:c.5671A>T |
| DMD transcript variant X10 | XM_017029329.1:c.5671= | XM_017029329.1:c.5671A>T |
| DMD transcript variant X12 | XM_011545469.2:c.5671= | XM_011545469.2:c.5671A>T |
| DMD transcript variant X12 | XM_011545469.1:c.5671= | XM_011545469.1:c.5671A>T |
| DMD transcript variant Dp427l | NM_004007.2:c.5302= | NM_004007.2:c.5302A>T |
| DMD transcript variant X13 | XM_047441889.1:c.5548= | XM_047441889.1:c.5548A>T |
| dystrophin isoform Dp427c | NP_000100.3:p.Lys1883= | NP_000100.3:p.Lys1883Ter |
| dystrophin isoform Dp260-2 | NP_004003.2:p.Lys547= | NP_004003.2:p.Lys547Ter |
| dystrophin isoform Dp260-1 | NP_004002.3:p.Lys550= | NP_004002.3:p.Lys550Ter |
| dystrophin isoform Dp427p2 | NP_004001.1:p.Lys1768= | NP_004001.1:p.Lys1768Ter |
| dystrophin isoform Dp427p1 | NP_004000.1:p.Lys1887= | NP_004000.1:p.Lys1887Ter |
| dystrophin isoform Dp427m | NP_003997.2:p.Lys1891= | NP_003997.2:p.Lys1891Ter |
| dystrophin isoform X3 | XP_006724533.1:p.Lys1891= | XP_006724533.1:p.Lys1891Ter |
| dystrophin isoform X2 | XP_006724532.1:p.Lys1883= | XP_006724532.1:p.Lys1883Ter |
| dystrophin isoform X7 | XP_006724537.1:p.Lys1891= | XP_006724537.1:p.Lys1891Ter |
| dystrophin isoform X1 | XP_006724531.1:p.Lys1891= | XP_006724531.1:p.Lys1891Ter |
| dystrophin isoform X6 | XP_006724536.1:p.Lys1845= | XP_006724536.1:p.Lys1845Ter |
| dystrophin isoform X8 | XP_006724538.1:p.Lys1891= | XP_006724538.1:p.Lys1891Ter |
| dystrophin isoform X11 | XP_016884819.1:p.Lys1891= | XP_016884819.1:p.Lys1891Ter |
| dystrophin isoform X9 | XP_011543770.1:p.Lys1891= | XP_011543770.1:p.Lys1891Ter |
| dystrophin isoform X4 | XP_016884817.1:p.Lys1891= | XP_016884817.1:p.Lys1891Ter |
| dystrophin isoform X5 | XP_011543769.1:p.Lys1850= | XP_011543769.1:p.Lys1850Ter |
| dystrophin isoform X10 | XP_016884818.1:p.Lys1891= | XP_016884818.1:p.Lys1891Ter |
| dystrophin isoform X12 | XP_011543771.1:p.Lys1891= | XP_011543771.1:p.Lys1891Ter |
| dystrophin isoform X13 | XP_047297845.1:p.Lys1850= | XP_047297845.1:p.Lys1850Ter |
| dystrophin isoform Dp427c | NP_000100.2:p.Lys1883= | NP_000100.2:p.Lys1883Ter |
| dystrophin isoform Dp427m | NP_003997.1:p.Lys1891= | NP_003997.1:p.Lys1891Ter |
| dystrophin Dp427l isoform | NP_003998.1:p.Lys1768= | NP_003998.1:p.Lys1768Ter |
| dystrophin isoform Dp260-1 | NP_004002.2:p.Lys550= | NP_004002.2:p.Lys550Ter |
| dystrophin isoform Dp260-2 | NP_004003.1:p.Lys547= | NP_004003.1:p.Lys547Ter |
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#.
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | EGL | ss947847828 | Jan 23, 2014 (138) |
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).
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 23757202 | Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. | Bean LJ et al. | 2013 | Human mutation |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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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.
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.