RGD:405104265 Rat Genome Database

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Variant: RGD:405104265 -  Homo sapiens

RGD ID: 405104265
ClinVar ID: CV3116681
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KAT6A  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 41,794,771
GRCh38 8 41,937,253
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006766.5:c.3352+3A>G
NG_042093.1:g.119774A>G
NC_000008.11:g.41937253T>C
NC_000008.10:g.41794771T>C
 08/11/2023 intron variant uncertain significance none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003812205 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KAT6A CLINVAR
OMIM 601408 CLINVAR