RGD:11591810 Rat Genome Database

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Variant: RGD:11591810 -  Homo sapiens

RGD ID: 11591810
RS ID: rs199654929
ClinVar ID: CV301990
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP6V0A4  LOC123956241  TMEM213  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 138,482,827
GRCh38 7 138,798,082
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.5115C>T
NC_000007.14:g.138798082G>A
NC_000007.13:g.138482827G>A
NM_020632.3:c.-169C>T
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;EXON

Gene Symbol:TMEM213
Accession:NM_001085429
Location:5UTRS;EXON

Gene Symbol:ATP6V0A4
Accession:NM_130841
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000332752 CLINVAR
dbSNP (RS) rs199654929 CLINVAR
MedGen C1864498 CLINVAR
NCBI Gene ATP6V0A4 CLINVAR
  LOC123956241 CLINVAR
  TMEM213 CLINVAR
OMIM 605239 CLINVAR