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dbSNP Short Genetic Variations

Reference SNP (rs) Report

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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.

rs72558454

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chrX:38408987 (GRCh38.p7) 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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
None
Clinical Significance
Reported in ClinVar
Gene : Consequence
OTC : Missense Variant
Publications
2 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.p7 chr X NC_000023.11:g.38408987C>T
GRCh37.p13 chr X NC_000023.10:g.38268240C>T
OTC RefSeqGene NG_008471.1:g.61505C>T
Gene: OTC, ornithine carbamoyltransferase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
OTC transcript NM_000531.5:c.829C>T R [CGG] > W [TGG] Coding Sequence Variant
ornithine carbamoyltransferase, mitochondrial precursor NP_000522.3:p.Arg...

NP_000522.3:p.Arg277Trp

R (Arg) > W (Trp) Missense Variant
OTC transcript variant X1 XM_017029556.1:c....

XM_017029556.1:c.829C>T

R [CGG] > W [TGG] Coding Sequence Variant
ornithine carbamoyltransferase, mitochondrial isoform X1 XP_016885045.1:p....

XP_016885045.1:p.Arg277Trp

R (Arg) > W (Trp) 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: T (allele ID: 26038 )
ClinVar Accession Disease Names Clinical Significance
RCV000011746.2 Ornithine carbamoyltransferase deficiency Pathogenic
RCV000083586.3 not provided 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").

None
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 C= T Note
GRCh38.p7 chr X NC_000023.11:g.38408987C= NC_000023.11:g.38408987C>T
GRCh37.p13 chr X NC_000023.10:g.38268240C= NC_000023.10:g.38268240C>T
OTC RefSeqGene NG_008471.1:g.61505C= NG_008471.1:g.61505C>T
OTC transcript NM_000531.5:c.829C= NM_000531.5:c.829C>T
OTC transcript variant X1 XM_017029556.1:c.829C= XM_017029556.1:c.829C>T
ornithine carbamoyltransferase, mitochondrial precursor NP_000522.3:p.Arg277= NP_000522.3:p.Arg277Trp
ornithine carbamoyltransferase, mitochondrial isoform X1 XP_016885045.1:p.Arg277= XP_016885045.1:p.Arg277Trp
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#.

2 ClinVar, 5 SubSNP submissions
No Submitter Submission ID Date (Build)
1 GENMED_METABOLISM ss105442010 Feb 13, 2009 (130)
2 OMIM-CURATED-RECORDS ss289354237 Dec 29, 2010 (133)
3 NCBI-CURATED-RECORDS ss537713386 Jan 04, 2013 (137)
4 ILLUMINA ss1958188643 Feb 12, 2016 (147)
5 ILLUMINA ss3023002361 Nov 08, 2017 (151)
6 ClinVar RCV000011746.2 Jul 20, 2018 (151)
7 ClinVar RCV000083586.3 Jul 20, 2018 (151)
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
ss1958188643, ss3023002361 NC_000023.10:38268239:C= NC_000023.11:38408986:C= (self)
ss105442010, ss289354237, ss537713386 NC_000023.11:38408986:C= NC_000023.11:38408986:C= (self)
ss1958188643, ss3023002361 NC_000023.10:38268239:C>T NC_000023.11:38408986:C>T (self)
RCV000011746.2, RCV000083586.3, ss105442010, ss289354237, ss537713386 NC_000023.11:38408986:C>T NC_000023.11:38408986:C>T (self)
Help

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

2 citations for rs72558454
PMID Title Author Year Journal
2037279 A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency. Hata A et al. 1991 Human genetics
2246687 Late-onset ornithine transcarbamylase deficiency in male patients. Finkelstein JE et al. 1990 The Journal of pediatrics

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: 0.1.4.post833+d3ba21e