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NM_000128.4(F11):c.301_307dup (p.Cys103Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 26, 2020
Accession:
VCV001069204.1
Variation ID:
1069204
Description:
7bp duplication
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NM_000128.4(F11):c.301_307dup (p.Cys103Ter)

Allele ID
1060012
Variant type
Duplication
Variant length
7 bp
Cytogenetic location
4q35.2
Genomic location
4: 186273152-186273153 (GRCh38) GRCh38 UCSC
4: 187194306-187194307 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.187194307_187194313dup
NC_000004.12:g.186273153_186273159dup
NM_000128.4:c.301_307dup MANE Select NP_000119.1:p.Cys103Ter nonsense
... more HGVS
Protein change
C103*
Other names
-
Canonical SPDI
NC_000004.12:186273152:AAGCAAT:AAGCAATAAGCAAT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Mar 26, 2020 RCV001380981.1
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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
Pathogenic
(Mar 26, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001579224.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Cys103*) in the F11 gene. It is expected to result in an absent or disrupted protein … (more)

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
Congenital factor XI deficiency: an update. Duga S Seminars in thrombosis and hemostasis 2013 PMID: 23929304
Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families. Ventura C Thrombosis and haemostasis 2000 PMID: 11127865

Record last updated May 13, 2021