RGD:401734648 Rat Genome Database

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Variant: RGD:401734648 -  Homo sapiens

RGD ID: 401734648
ClinVar ID: CV2737049
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F13A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 6,222,265
GRCh38 6 6,222,032
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000129.4:c.1112+1G>A
LRG_549:g.103660G>A
NG_008107.1:g.103660G>A
NC_000006.12:g.6222032C>T
More... 		splice donor variant likely pathogenic Factor XIII subunit A deficiency
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:F13A1
Accession:NM_000129
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003313841 CLINVAR
MedGen C2750514 CLINVAR
NCBI Gene F13A1 CLINVAR
OMIM 134570 CLINVAR
  613225 CLINVAR