RGD:597704195 Rat Genome Database

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Variant: RGD:597704195 -  Homo sapiens

RGD ID: 597704195
ClinVar ID: CV3582638
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RALGAPB  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 37,146,563
GRCh38 20 38,517,920
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000020.10:g.37146563T>C
NM_020336.2:c.1337T>C
NP_001269846.1:p.Leu446Pro
NP_001269847.1:p.Leu446Pro
More...
11/09/2024 missense variant uncertain significance AllHighlyPenetrant

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Database
Acc Id
Source(s)
ClinVar RCV004860272 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene RALGAPB CLINVAR
OMIM 618833 CLINVAR