Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_019616.4(F7):c.481G>A (p.Asp161Asn)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 20, 2020)
Last evaluated:
Apr 27, 2017
Accession:
VCV000883753.1
Variation ID:
883753
Description:
single nucleotide variant
Help

NM_019616.4(F7):c.481G>A (p.Asp161Asn)

Allele ID
870759
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q34
Genomic location
13: 113115776 (GRCh38) GRCh38 UCSC
13: 113770090 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.113770090G>A
NC_000013.11:g.113115776G>A
NM_019616.4:c.481G>A MANE Select NP_062562.1:p.Asp161Asn missense
... more HGVS
Protein change
D161N, D99N, D183N
Other names
-
Canonical SPDI
NC_000013.11:113115775:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 27, 2017 RCV001114434.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
F7 - - GRCh38
GRCh37
160 282

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Factor VII deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001272314.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene. Herrmann FH Haemophilia : the official journal of the World Federation of Hemophilia 2009 PMID: 18976247

Record last updated Apr 08, 2021