RGD:150446024 Rat Genome Database

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Variant: RGD:150446024 -  Homo sapiens

RGD ID: 150446024
RS ID: rs2444842
ClinVar ID: CV1261298
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALK1  LOC127887958  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 73,754,806
GRCh38 17 75,758,725
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1430t1:c.794-126T>C
NM_000154.2:c.794-126T>C
NM_001381985.1:c.794-126T>C
LRG_1430:g.11475T>C
More... 		06/29/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GALK1
Accession:NM_001381985
Location:INTRON

Gene Symbol:GALK1
Accession:NM_000154
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001679972 CLINVAR
dbSNP (RS) rs2444842 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GALK1 CLINVAR
OMIM 604313 CLINVAR