RGD:21068617 Rat Genome Database

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Variant: RGD:21068617 -  Homo sapiens

RGD ID: 21068617
RS ID: rs755278709
ClinVar ID: CV795308
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP6V1A  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 113,505,231
GRCh38 3 113,786,384
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_047012.1:g.44366G>T
NC_000003.12:g.113786384G>T
NC_000003.11:g.113505231G>T
NM_001690.4:c.716+1G>T
 11/01/2023 splice donor variant likely pathogenic|uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ATP6V1A
Accession:NM_001690
Location:INTRON

Gene Symbol:ATP6V1A
Accession:XM_047448305
Location:INTRON

Gene Symbol:ATP6V1A
Accession:XM_047448306
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000998122 CLINVAR
dbSNP (RS) rs755278709 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ATP6V1A CLINVAR
OMIM 607027 CLINVAR