RGD:405200097 Rat Genome Database

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Variant: RGD:405200097 -  Homo sapiens

RGD ID: 405200097
ClinVar ID: CV3147241
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DEAF1  LOC127820022  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 694,961
GRCh38 11 694,961
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001280563.1:p.Ala29=
NP_066288.2:p.Ala29=
NM_001367390.1:c.-437-3363C>G
NM_001293634.1:c.87C>G
More... 		09/04/2023 intron variant likely benign none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003844401 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DEAF1 CLINVAR
OMIM 602635 CLINVAR