RGD:407424792 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:407424792 -  Homo sapiens

RGD ID: 407424792
ClinVar ID: CV3410933
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SALL1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 51,173,851
GRCh38 16 51,139,940
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_674p1:p.Pro761Leu
NP_001121364.1:p.Pro664Leu
NP_002959.2:p.Pro761Leu
NP_002959.2:p.Pro761Leu
More...
11/02/2023 missense variant uncertain significance none provided

Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004588623 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SALL1 CLINVAR
OMIM 602218 CLINVAR