RGD:14723369 Rat Genome Database

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Variant: RGD:14723369 -  Homo sapiens

RGD ID: 14723369
RS ID: rs73463376
ClinVar ID: CV671046
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP6AP2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 40,459,085
GRCh38 X 40,599,833
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005765.3:c.738+92T>C
NG_008874.1:g.23870T>C
NC_000023.11:g.40599833T>C
NC_000023.10:g.40459085T>C
More... 		06/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ATP6AP2
Accession:NM_005765
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000832503 CLINVAR
dbSNP (RS) rs73463376 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ATP6AP2 CLINVAR
OMIM 300556 CLINVAR