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NM_000128.4(F11):c.1609A>T (p.Ile537Leu)

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 28, 2020)
Last evaluated:
Aug 5, 2020
Accession:
VCV000989871.1
Variation ID:
989871
Description:
single nucleotide variant
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NM_000128.4(F11):c.1609A>T (p.Ile537Leu)

Allele ID
978079
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q35.2
Genomic location
4: 186287716 (GRCh38) GRCh38 UCSC
4: 187208870 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.187208870A>T
NC_000004.12:g.186287716A>T
NM_000128.4:c.1609A>T MANE Select NP_000119.1:p.Ile537Leu missense
... more HGVS
Protein change
I537L
Other names
-
Canonical SPDI
NC_000004.12:186287715:A:T
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
Plasma factor XI deficiency
Uncertain significance 1 no assertion criteria provided Aug 5, 2020 RCV001277774.1
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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
F11-AS1 - - - GRCh38 - 173

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 05, 2020)
no assertion criteria provided
Method: clinical testing
Plasma factor XI deficiency
Allele origin: germline
Natera, Inc.
Accession: SCV001464743.1
Submitted: (Dec 28, 2020)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jan 02, 2021