RGD:14731184 Rat Genome Database

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Variant: RGD:14731184 -  Homo sapiens

RGD ID: 14731184
RS ID: rs2274890
ClinVar ID: CV670454
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABHD12  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 25,301,022
GRCh38 20 25,320,386
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001042472.3:c.423-68C>T
NM_015600.5:c.423-68C>T
NG_028119.1:g.75597C>T
NC_000020.11:g.25320386G>A
More... 		06/14/2018 intron variant benign none provided; 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:XM_047440093
Location:5UTRS;INTRON

Gene Symbol:ABHD12
Accession:XM_047440092
Location:5UTRS;INTRON

Gene Symbol:ABHD12
Accession:XM_047440094
Location:5UTRS;INTRON

Gene Symbol:ABHD12
Accession:XM_047440091
Location:5UTRS;INTRON

Gene Symbol:ABHD12
Accession:NM_015600
Location:INTRON

Gene Symbol:ABHD12
Accession:NM_001042472
Location:INTRON

Gene Symbol:ABHD12
Accession:XM_011529214
Location:INTRON

Gene Symbol:ABHD12
Accession:XM_017027797
Location:INTRON

Gene Symbol:ABHD12
Accession:XM_047440090
Location:INTRON

Gene Symbol:ABHD12
Accession:XM_047440089
Location:INTRON

Gene Symbol:ABHD12
Accession:XM_047440087
Location:INTRON

Gene Symbol:ABHD12
Accession:XM_047440088
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000836005 CLINVAR
  RCV001549196 CLINVAR
dbSNP (RS) rs2274890 CLINVAR
MedGen C2675204 CLINVAR
  C3661900 CLINVAR
NCBI Gene ABHD12 CLINVAR
OMIM 612674 CLINVAR
  613599 CLINVAR