NM_000821.7(GGCX):c.1502G>C (p.Trp501Ser) AND Vitamin K-dependent clotting factors, combined deficiency of, 1

Clinical significance:Pathogenic (Last evaluated: Nov 15, 2000)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000017579.29

Allele description [Variation Report for NM_000821.7(GGCX):c.1502G>C (p.Trp501Ser)]

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

Gene:
GGCX:gamma-glutamyl carboxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p11.2
Genomic location:
Preferred name:
NM_000821.7(GGCX):c.1502G>C (p.Trp501Ser)
HGVS:
  • NC_000002.12:g.85551919C>G
  • NG_011811.2:g.14616G>C
  • NM_000821.7:c.1502G>CMANE SELECT
  • NM_001142269.4:c.1331G>C
  • NP_000812.2:p.Trp501Ser
  • NP_001135741.1:p.Trp444Ser
  • LRG_592t1:c.1502G>C
  • LRG_592:g.14616G>C
  • LRG_592p1:p.Trp501Ser
  • NC_000002.11:g.85779042C>G
  • P38435:p.Trp501Ser
Protein change:
W444S; TRP501SER
Links:
UniProtKB: P38435#VAR_015218; OMIM: 137167.0002; dbSNP: rs28928872
NCBI 1000 Genomes Browser:
rs28928872
Molecular consequence:
  • NM_000821.7:c.1502G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142269.4:c.1331G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Vitamin K-dependent clotting factors, combined deficiency of, 1 (VKCFD1)
Synonyms:
FACTORS II, VII, IX, AND X, COMBINED DEFICIENCY OF; FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY III; FMFD III; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010187; MedGen: C1848534; Orphanet: 98434; OMIM: 277450

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000037851OMIMno assertion criteria providedPathogenic
(Nov 15, 2000)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Novel mutation in the gamma-glutamyl carboxylase gene resulting in congenital combined deficiency of all vitamin K-dependent blood coagulation factors.

Spronk HM, Farah RA, Buchanan GR, Vermeer C, Soute BA.

Blood. 2000 Nov 15;96(10):3650-2.

PubMed [citation]
PMID:
11071668

Details of each submission

From OMIM, SCV000037851.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Spronk et al. (2000) described a Lebanese boy, with consanguineous parents, who suffered from combined congenital deficiency of all vitamin K-dependent coagulation factors (VKCFD1; 277450). He was found to be homozygous for a point mutation in exon 11 of the gamma-glutamyl carboxylase gene, converting codon 501 from TGG to TCG and resulting in a trp501-to-ser (W501S) mutation. Oral vitamin K1 administration resulted in resolution of the clinical symptoms. Ten asymptomatic relatives were heterozygous for the mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 25, 2021

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