RGD:11599147 Rat Genome Database

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Variant: RGD:11599147 -  Homo sapiens

RGD ID: 11599147
RS ID: rs35301422
ClinVar ID: CV305167
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP6V0A4  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 138,470,910
GRCh38 7 138,786,165
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008145.1:g.17032C>G
NC_000007.14:g.138786165G>C
NC_000007.13:g.138470910G>C
NM_130840.3:c.-18+11869C>G
More... 		01/12/2018 5 prime utr variant benign|likely benign Renal tubular acidosis, autosomal recessive with preserved hearing; RTA, distal, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ATP6V0A4
Accession:NM_020632
Location:5UTRS;EXON

Gene Symbol:ATP6V0A4
Accession:NM_130840
Location:5UTRS;INTRON

Gene Symbol:ATP6V0A4
Accession:NM_130841
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000263115 CLINVAR
dbSNP (RS) rs35301422 CLINVAR
MedGen C1864498 CLINVAR
NCBI Gene ATP6V0A4 CLINVAR
OMIM 605239 CLINVAR