RGD:8558502 Rat Genome Database

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Variant: RGD:8558502 -  Homo sapiens

RGD ID: 8558502
RS ID: rs587776615
ClinVar ID: CV20191
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP6V0A4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 138,418,880
GRCh38 7 138,734,135
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_008145.1:g.69062G>A
NC_000007.14:g.138734135C>T
NC_000007.13:g.138418880C>T
NM_130841.3:c.1691+1G>A
More... 		05/09/2022 splice donor variant pathogenic childhood
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:10973252   PMID:12414817   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001807626 CLINVAR
dbSNP (RS) rs587776615 CLINVAR
MedGen C5399980 CLINVAR
NCBI Gene ATP6V0A4 CLINVAR
OMIM 602722 CLINVAR
  605239 CLINVAR
OMIM Allele 605239.0003 CLINVAR