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NM_000129.3(F13A1):c.1352_1353del (p.His451fs)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Sep 14, 2018)
Last evaluated:
May 16, 2018
Accession:
VCV000561177.1
Variation ID:
561177
Description:
2bp deletion
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NM_000129.3(F13A1):c.1352_1353del (p.His451fs)

Allele ID
552283
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
6p25.1
Genomic location
6: 6182094-6182095 (GRCh38) GRCh38 UCSC
6: 6182327-6182328 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.6182327_6182328del
NC_000006.12:g.6182094_6182095del
NM_000129.3:c.1352_1353del NP_000120.2:p.His451fs frameshift
... more HGVS
Protein change
H451fs
Other names
-
Canonical SPDI
NC_000006.12:6182093:AT:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1561645895
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 no assertion criteria provided May 16, 2018 RCV000714480.1
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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
Likely pathogenic
(May 16, 2018)
no assertion criteria provided
Method: clinical testing
Factor XIII, A subunit, deficiency of
(Autosomal recessive inheritance)
Allele origin: germline
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
Accession: SCV000804842.1
Submitted: (Sep 14, 2018)
Evidence details
Comment:
This patient is homozygous for this variant in the F13A1 gene. This frameshifting variant in exon 11 of 15 introduces a premature stop codon and … (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
Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage. Briggs B Cold Spring Harbor molecular case studies 2018 PMID: 30404926

Text-mined citations for rs1561645895...

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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 Mar 28, 2021