RGD:405238569 Rat Genome Database

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Variant: RGD:405238569 -  Homo sapiens

RGD ID: 405238569
ClinVar ID: CV2996769
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPTB  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 65,271,715
GRCh38 14 64,804,997
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1130t1:c.242A>T
LRG_1130t2:c.242A>T
NM_001024858.4:c.242A>T
NM_001355436.2:c.242A>T
More...
02/25/2023 missense variant uncertain significance none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003718691 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SPTB CLINVAR
OMIM 182870 CLINVAR