RGD:11627803 Rat Genome Database

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Variant: RGD:11627803 -  Homo sapiens

RGD ID: 11627803
RS ID: rs534140287
ClinVar ID: CV344832
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABHD12  LOC127892850  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 25,281,160
GRCh38 20 25,300,524
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_028119.1:g.95459G>T
NC_000020.11:g.25300524C>A
NC_000020.10:g.25281160C>A
NM_001042472.3:c.*321G>T
More...
01/12/2018 3 prime utr variant benign|likely benign Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract; Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Disease Annotations     Click to see Annotation Detail View
PHARC syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:ABHD12
Accession:NM_001042472
Location:3UTRS;EXON

Gene Symbol:ABHD12
Accession:XM_011529214
Location:3UTRS;EXON

Gene Symbol:ABHD12
Accession:XM_047440090
Location:3UTRS;EXON

Gene Symbol:ABHD12
Accession:XM_047440093
Location:3UTRS;EXON

Gene Symbol:ABHD12
Accession:XM_047440089
Location:3UTRS;EXON

Gene Symbol:ABHD12
Accession:NM_015600
Location:INTRON

Gene Symbol:ABHD12
Accession:XM_017027797
Location:INTRON

Gene Symbol:ABHD12
Accession:XM_047440087
Location:INTRON

Gene Symbol:ABHD12
Accession:XM_047440092
Location:INTRON

Gene Symbol:ABHD12
Accession:XM_047440094
Location:INTRON

Gene Symbol:ABHD12
Accession:XM_047440091
Location:INTRON

Gene Symbol:ABHD12
Accession:XM_047440088
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000288684 CLINVAR
dbSNP (RS) rs534140287 CLINVAR
MedGen C2675204 CLINVAR
NCBI Gene ABHD12 CLINVAR
OMIM 612674 CLINVAR
  613599 CLINVAR