NM_000821.7(GGCX):c.215-1G>T AND Vitamin K-dependent clotting factors, combined deficiency of, 1

Clinical significance:Pathogenic (Last evaluated: Aug 1, 2004)

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:
RCV000017582.30

Allele description [Variation Report for NM_000821.7(GGCX):c.215-1G>T]

NM_000821.7(GGCX):c.215-1G>T

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.215-1G>T
HGVS:
  • NC_000002.12:g.85559076C>A
  • NG_011811.2:g.7459G>T
  • NM_000821.7:c.215-1G>TMANE SELECT
  • NM_001142269.4:c.44-1G>T
  • NM_001311312.2:c.215-1G>T
  • LRG_592t1:c.215-1G>T
  • LRG_592:g.7459G>T
  • NC_000002.11:g.85786199C>A
  • NM_000821.5:c.215-1G>T
Note:
NCBI staff reviewed the sequence information reported in PubMed 15287948 Fig. 1 to determine the location of this allele on the current reference sequence.
Nucleotide change:
IVS2AS, G-T
Links:
OMIM: 137167.0004; dbSNP: rs786205096
NCBI 1000 Genomes Browser:
rs786205096
Molecular consequence:
  • NM_000821.7:c.215-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001142269.4:c.44-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001311312.2:c.215-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV000037854OMIMno assertion criteria providedPathogenic
(Aug 1, 2004)
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

Compound heterozygous mutations in the gamma-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factors.

Rost S, Fregin A, Koch D, Compes M, Müller CR, Oldenburg J.

Br J Haematol. 2004 Aug;126(4):546-9.

PubMed [citation]
PMID:
15287948

Details of each submission

From OMIM, SCV000037854.4

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

Description

For discussion of the G-to-T transversion in the 3-prime splice site of intron 2 of the GGCX gene that was found in compound heterozygous state in a patient with combined deficiency of all vitamin K-dependent blood coagulation factors (VKCFD1; 277450) by Rost et al. (2004), see 137167.0003.

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

Last Updated: Jan 25, 2021

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