NM_019616.4(F7):c.1099T>G (p.Cys367Gly) AND Factor VII deficiency

Clinical significance:Pathogenic (Last evaluated: Oct 1, 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:
RCV000012866.6

Allele description [Variation Report for NM_019616.4(F7):c.1099T>G (p.Cys367Gly)]

NM_019616.4(F7):c.1099T>G (p.Cys367Gly)

Gene:
F7:coagulation factor VII [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q34
Genomic location:
Preferred name:
NM_019616.4(F7):c.1099T>G (p.Cys367Gly)
Other names:
F7, CYS329GLY; C329G
HGVS:
  • NC_000013.11:g.113118772T>G
  • NG_009258.1:g.974T>G
  • NG_009262.1:g.17982T>G
  • NM_000131.4:c.1165T>G
  • NM_001267554.1:c.913T>G
  • NM_019616.4:c.1099T>GMANE SELECT
  • NP_000122.1:p.Cys389Gly
  • NP_001254483.1:p.Cys305Gly
  • NP_062562.1:p.Cys367Gly
  • LRG_554t1:c.1165T>G
  • LRG_548:g.974T>G
  • LRG_554:g.17982T>G
  • LRG_554p1:p.Cys389Gly
  • NC_000013.10:g.113773086T>G
  • NR_051961.2:n.1183T>G
  • P08709:p.Cys389Gly
Note:
NCBI staff reviewed the sequence information reported in PubMed 11091194 Fig. 1 to determine the location of this allele on the current reference sequence.
Protein change:
C305G; CYS329GLY
Links:
UniProtKB: P08709#VAR_014392; OMIM: 613878.0019; dbSNP: rs121964934
NCBI 1000 Genomes Browser:
rs121964934
Molecular consequence:
  • NM_000131.4:c.1165T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267554.1:c.913T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019616.4:c.1099T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_051961.2:n.1183T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Factor VII deficiency
Synonyms:
Factor 7 deficiency; F7 deficiency; Hypoproconvertinemia
Identifiers:
MedGen: C0015503; Orphanet: 327; OMIM: 227500

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033107OMIMno assertion criteria providedPathogenic
(Oct 1, 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

Two novel factor VII gene mutations in a Chinese family with factor VII deficiency.

Au WY, Lam CC, Chan EC, Kwong YL.

Br J Haematol. 2000 Oct;111(1):143-5.

PubMed [citation]
PMID:
11091194

Details of each submission

From OMIM, SCV000033107.4

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

Description

For discussion of the cys329-to-gly (C329G) mutation in the F7 gene that was found in compound heterozygous state in a patient with factor VII deficiency (225700) by Au et al. (2000), see 613878.0018.

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

Last Updated: Apr 12, 2021

Support Center