NM_019616.4(F7):c.1172G>A (p.Arg391Gln) AND Factor VII deficiency

Clinical significance:Benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000396014.2

Allele description [Variation Report for NM_019616.4(F7):c.1172G>A (p.Arg391Gln)]

NM_019616.4(F7):c.1172G>A (p.Arg391Gln)

Genes:
F10:coagulation factor X [Gene - OMIM - HGNC]
F7:coagulation factor VII [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q34
Genomic location:
Preferred name:
NM_019616.4(F7):c.1172G>A (p.Arg391Gln)
Other names:
F7, ARG353GLN; R353Q
HGVS:
  • NC_000013.11:g.113118845G>A
  • NG_009258.1:g.1047G>A
  • NG_009262.1:g.18055G>A
  • NM_000131.4:c.1238G>A
  • NM_001267554.1:c.986G>A
  • NM_019616.4:c.1172G>AMANE SELECT
  • NP_000122.1:p.Arg413Gln
  • NP_001254483.1:p.Arg329Gln
  • NP_062562.1:p.Arg391Gln
  • LRG_554t1:c.1238G>A
  • LRG_548:g.1047G>A
  • LRG_554:g.18055G>A
  • LRG_554p1:p.Arg413Gln
  • NC_000013.10:g.113773159G>A
  • NR_051961.2:n.1256G>A
  • P08709:p.Arg413Gln
Protein change:
R329Q; ARG353GLN
Links:
UniProtKB: P08709#VAR_006518; OMIM: 613878.0014; dbSNP: rs6046
NCBI 1000 Genomes Browser:
rs6046
Molecular consequence:
  • NM_000131.4:c.1238G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267554.1:c.986G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019616.4:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_051961.2:n.1256G>A - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000382744Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Jun 14, 2016)
germlineclinical testing

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

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Factor VII Deficiency.

Perry DJ.

Br J Haematol. 2002 Sep;118(3):689-700. Review. No abstract available.

PubMed [citation]
PMID:
12181036

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000382744.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 2, 2021

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