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NM_000129.4(F13A1):c.563G>T (p.Trp188Leu)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jun 19, 2019)
Accession:
VCV000634901.1
Variation ID:
634901
Description:
single nucleotide variant
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NM_000129.4(F13A1):c.563G>T (p.Trp188Leu)

Allele ID
622738
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p25.1
Genomic location
6: 6266566 (GRCh38) GRCh38 UCSC
6: 6266799 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_549:g.59126G>T
LRG_549t1:c.563G>T LRG_549p1:p.Trp188Leu
NC_000006.11:g.6266799C>A
... more HGVS
Protein change
W188L
Other names
-
Canonical SPDI
NC_000006.12:6266565:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1561673120
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided - RCV000785755.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
F13A1 - - GRCh38
GRCh37
162 200

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Hereditary factor XIII deficiency disease
(Autosomal recessive inheritance)
Allele origin: inherited
Hematology and Blood Transfusion,Iran University of Medical Sciences
Accession: SCV000924313.1
Submitted: (Jun 19, 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
Factor XIII Deficiency in Western Afghanistan due to a Novel F13A Gene Mutation. Mousavi SH International journal of laboratory hematology 2020 PMID: 31136071

Text-mined citations for rs1561673120...

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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 24, 2021