RGD:11607380 Rat Genome Database

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Variant: RGD:11607380 -  Homo sapiens

RGD ID: 11607380
RS ID: rs144802156
ClinVar ID: CV309874
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP6V0A4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 138,447,178
GRCh38 7 138,762,433
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020632.2:c.419C>T
NP_570855.2:p.Thr140Met
NG_008145.1:g.40764C>T
NC_000007.14:g.138762433G>A
More... 		06/14/2016 missense variant uncertain significance AllHighlyPenetrant; 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_130840
Location:EXON

Gene Symbol:ATP6V0A4
Accession:NM_020632
Location:EXON

Gene Symbol:ATP6V0A4
Accession:NM_130841
Location:EXON

Variant Samples
Additional References at PubMed
PMID:29024829  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000342844 CLINVAR
  RCV001797709 CLINVAR
dbSNP (RS) rs144802156 CLINVAR
MedGen C1864498 CLINVAR
  CN169374 CLINVAR
NCBI Gene ATP6V0A4 CLINVAR
OMIM 605239 CLINVAR