RGD:11588462 Rat Genome Database

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Variant: RGD:11588462 -  Homo sapiens

RGD ID: 11588462
RS ID: rs186717040
ClinVar ID: CV301984
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP6V0A4  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 138,453,999
GRCh38 7 138,769,254
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020632.3:c.118-3T>A
NM_020632.2:c.118-3T>A
NG_008145.1:g.33943T>A
NC_000007.14:g.138769254A>T
More... 		01/26/2021 intron variant uncertain significance none provided; 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_130841
Location:INTRON

Gene Symbol:ATP6V0A4
Accession:NM_130840
Location:INTRON

Gene Symbol:ATP6V0A4
Accession:NM_020632
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000303134 CLINVAR
  RCV001298986 CLINVAR
dbSNP (RS) rs186717040 CLINVAR
MedGen C1864498 CLINVAR
  C3661900 CLINVAR
NCBI Gene ATP6V0A4 CLINVAR
OMIM 605239 CLINVAR