RGD:8558504 Rat Genome Database

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Variant: RGD:8558504 -  Homo sapiens

RGD ID: 8558504
RS ID: rs3807153
ClinVar ID: CV20193
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP6V0A4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 138,417,791
GRCh38 7 138,733,046
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.70151T>C
NC_000007.14:g.138733046A>G
NC_000007.13:g.138417791A>G
NP_065683.2:p.Met580Thr
More... 		05/28/2019 missense|missense variant pathogenic|benign|likely benign childhood AllHighlyPenetrant; 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_130840
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 580
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSVFRSEEMCLSQLFLQVEAAYCCVAELGELGLVQFKDLNMNVNSFQRKFVNEVRRCESLERILRFLEDEMQNEIVVQL
LEKSPLTPLPREMITLETVLEKLEGELQEANQNQQALKQSFLELTELKYLLKKTQDFFETETNLADDFFTEDTSGLLELK
AVPAYMTGKLGFIAGVINRERMASFERLLWRICRGNVYLKFSEMDAPLEDPVTKEEIQKNIFIIFYQGEQLRQKIKKICD
GFRATVYPCPEPAVERREMLESVNVRLEDLITVITQTESHRQRLLQEAAANWHSWLIKVQKMKAVYHILNMCNIDVTQQC
VIAEIWFPVADATRIKRALEQGMELSGSSMAPIMTTVQSKTAPPTFNRTNKFTAGFQNIVDAYGVGSYREINPAPYTIIT
FPFLFAVMFGDCGHGTVMLLAALWMILNERRLLSQKTDNEIWNTFFHGRYLILLMGIFSIYTGLIYNDCFSKSLNIFGSS
WSVQPMFRNGTWNTHVMEESLYLQLDPAIPGVYFGNPYPFGIDPIWNLASNKLTFLNSYKMKMSVILGIVQMVFGVILSL
FNHIYFRRTLNIILQFIPETIFILCLFGYLVFMIIFKWCCFDVHVSQHAPSILIHFINMFLFNYSDSSNAPLYKHQQEVQ
SFFVVMALISVPWMLLIKPFILRASHRKSQLQASRIQEDATENIEGDSSSPSSRSGQRTSADTHGALDDHGEEFNFGDVF
VHQAIHTIEYCLGCISNTASYLRLWALSLAHAQLSEVLWTMVMNSGLQTRGWGGIVGVFIIFAVFAVLTVAILLIMEGLS
AFLHALRLHWVEFQNKFYVGDGYKFSPFSFKHILDGTAEE*

Gene Symbol:ATP6V0A4
Accession:NM_130841
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 580
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSVFRSEEMCLSQLFLQVEAAYCCVAELGELGLVQFKDLNMNVNSFQRKFVNEVRRCESLERILRFLEDEMQNEIVVQL
LEKSPLTPLPREMITLETVLEKLEGELQEANQNQQALKQSFLELTELKYLLKKTQDFFETETNLADDFFTEDTSGLLELK
AVPAYMTGKLGFIAGVINRERMASFERLLWRICRGNVYLKFSEMDAPLEDPVTKEEIQKNIFIIFYQGEQLRQKIKKICD
GFRATVYPCPEPAVERREMLESVNVRLEDLITVITQTESHRQRLLQEAAANWHSWLIKVQKMKAVYHILNMCNIDVTQQC
VIAEIWFPVADATRIKRALEQGMELSGSSMAPIMTTVQSKTAPPTFNRTNKFTAGFQNIVDAYGVGSYREINPAPYTIIT
FPFLFAVMFGDCGHGTVMLLAALWMILNERRLLSQKTDNEIWNTFFHGRYLILLMGIFSIYTGLIYNDCFSKSLNIFGSS
WSVQPMFRNGTWNTHVMEESLYLQLDPAIPGVYFGNPYPFGIDPIWNLASNKLTFLNSYKMKMSVILGIVQMVFGVILSL
FNHIYFRRTLNIILQFIPETIFILCLFGYLVFMIIFKWCCFDVHVSQHAPSILIHFINMFLFNYSDSSNAPLYKHQQEVQ
SFFVVMALISVPWMLLIKPFILRASHRKSQLQASRIQEDATENIEGDSSSPSSRSGQRTSADTHGALDDHGEEFNFGDVF
VHQAIHTIEYCLGCISNTASYLRLWALSLAHAQLSEVLWTMVMNSGLQTRGWGGIVGVFIIFAVFAVLTVAILLIMEGLS
AFLHALRLHWVEFQNKFYVGDGYKFSPFSFKHILDGTAEE*

Gene Symbol:ATP6V0A4
Accession:NM_020632
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 580
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSVFRSEEMCLSQLFLQVEAAYCCVAELGELGLVQFKDLNMNVNSFQRKFVNEVRRCESLERILRFLEDEMQNEIVVQL
LEKSPLTPLPREMITLETVLEKLEGELQEANQNQQALKQSFLELTELKYLLKKTQDFFETETNLADDFFTEDTSGLLELK
AVPAYMTGKLGFIAGVINRERMASFERLLWRICRGNVYLKFSEMDAPLEDPVTKEEIQKNIFIIFYQGEQLRQKIKKICD
GFRATVYPCPEPAVERREMLESVNVRLEDLITVITQTESHRQRLLQEAAANWHSWLIKVQKMKAVYHILNMCNIDVTQQC
VIAEIWFPVADATRIKRALEQGMELSGSSMAPIMTTVQSKTAPPTFNRTNKFTAGFQNIVDAYGVGSYREINPAPYTIIT
FPFLFAVMFGDCGHGTVMLLAALWMILNERRLLSQKTDNEIWNTFFHGRYLILLMGIFSIYTGLIYNDCFSKSLNIFGSS
WSVQPMFRNGTWNTHVMEESLYLQLDPAIPGVYFGNPYPFGIDPIWNLASNKLTFLNSYKMKMSVILGIVQMVFGVILSL
FNHIYFRRTLNIILQFIPETIFILCLFGYLVFMIIFKWCCFDVHVSQHAPSILIHFINMFLFNYSDSSNAPLYKHQQEVQ
SFFVVMALISVPWMLLIKPFILRASHRKSQLQASRIQEDATENIEGDSSSPSSRSGQRTSADTHGALDDHGEEFNFGDVF
VHQAIHTIEYCLGCISNTASYLRLWALSLAHAQLSEVLWTMVMNSGLQTRGWGGIVGVFIIFAVFAVLTVAILLIMEGLS
AFLHALRLHWVEFQNKFYVGDGYKFSPFSFKHILDGTAEE*
Variant Samples
Additional References at PubMed
PMID:10973252   PMID:16611712   PMID:24252324   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000005461 CLINVAR
  RCV000244134 CLINVAR
  RCV001512758 CLINVAR
  RCV001807628 CLINVAR
dbSNP (RS) rs3807153 CLINVAR
MedGen C1864498 CLINVAR
  C3661900 CLINVAR
  C5399980 CLINVAR
  CN169374 CLINVAR
NCBI Gene ATP6V0A4 CLINVAR
OMIM 602722 CLINVAR
  605239 CLINVAR
OMIM Allele 605239.0005 CLINVAR