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NM_000128.3(F11):c.343del (p.Tyr115fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Feb 1, 2019
Accession:
VCV000626957.1
Variation ID:
626957
Description:
1bp deletion
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NM_000128.3(F11):c.343del (p.Tyr115fs)

Allele ID
615395
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
4q35.2
Genomic location
4: 186274131 (GRCh38) GRCh38 UCSC
4: 187195285 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000128.3:c.343delT frameshift
LRG_583:g.13170del
LRG_583t1:c.343del LRG_583p1:p.Tyr115fs
... more HGVS
Protein change
Y115fs
Other names
-
Canonical SPDI
NC_000004.12:186274130:TTT:TT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1580075457
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Feb 1, 2019 RCV000851639.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
F11 - - GRCh38
GRCh37
268 510

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 01, 2019)
criteria provided, single submitter
Method: research
Hereditary factor XI deficiency disease
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Study: ThromboGenomics
Accession: SCV000899679.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (1)

Functional evidence

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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

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Title Author Journal Year Link
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. Downes K Blood 2019 PMID: 31064749

Text-mined citations for rs1580075457...

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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 Oct 08, 2021