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NM_000821.7(GGCX):c.1502G>C (p.Trp501Ser)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Nov 15, 2000
Accession:
VCV000016195.1
Variation ID:
16195
Description:
single nucleotide variant
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NM_000821.7(GGCX):c.1502G>C (p.Trp501Ser)

Allele ID
31234
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p11.2
Genomic location
2: 85551919 (GRCh38) GRCh38 UCSC
2: 85779042 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.85779042C>G
NC_000002.12:g.85551919C>G
NM_000821.7:c.1502G>C MANE Select NP_000812.2:p.Trp501Ser missense
... more HGVS
Protein change
W501S, W444S
Other names
-
Canonical SPDI
NC_000002.12:85551918:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA126263
UniProtKB: P38435#VAR_015218
OMIM: 137167.0002
dbSNP: rs28928872
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Nov 15, 2000 RCV000017579.29
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GGCX - - GRCh38
GRCh37
243 269

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 15, 2000)
no assertion criteria provided
Method: literature only
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
Allele origin: germline
OMIM
Accession: SCV000037851.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Novel mutation in the gamma-glutamyl carboxylase gene resulting in congenital combined deficiency of all vitamin K-dependent blood coagulation factors. Spronk HM Blood 2000 PMID: 11071668

Text-mined citations for rs28928872...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jan 25, 2021