RGD:405171159 Rat Genome Database

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Variant: RGD:405171159 -  Homo sapiens

RGD ID: 405171159
ClinVar ID: CV3122393
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KAT6A  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 41,832,283
GRCh38 8 41,974,765
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001305878.2:c.1421A>G
NM_006766.5:c.1421A>G
NG_042093.1:g.82262A>G
NC_000008.11:g.41974765T>C
More... 		10/13/2023 missense variant uncertain significance none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003818982 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KAT6A CLINVAR
OMIM 601408 CLINVAR