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_000504.4(F10):c.1043G>A (p.Trp348Ter)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 1, 2019)
Last evaluated:
Nov 7, 2018
Accession:
VCV000631696.1
Variation ID:
631696
Description:
single nucleotide variant
Help

NM_000504.4(F10):c.1043G>A (p.Trp348Ter)

Allele ID
620466
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q34
Genomic location
13: 113149093 (GRCh38) GRCh38 UCSC
13: 113803407 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.113803407G>A
NC_000013.11:g.113149093G>A
NM_000504.4:c.1043G>A MANE Select NP_000495.1:p.Trp348Ter nonsense
... more HGVS
Protein change
W348*, W304*
Other names
-
Canonical SPDI
NC_000013.11:113149092:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1566922655
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 Nov 7, 2018 RCV000778386.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
F10 - - GRCh38
GRCh37
78 216

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 07, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary factor X deficiency disease
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000914610.1
Submitted: (Feb 01, 2019)
Evidence details
Comment:
The F10 c.1043G>A (p.Trp348Ter) variant is a stop-gained variant that is predicted to result in a premature termination of the protein. A literature search was … (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
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1566922655...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated May 01, 2021