RGD:11590364 Rat Genome Database

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Variant: RGD:11590364 -  Homo sapiens

RGD ID: 11590364
RS ID: rs577414446
ClinVar ID: CV290397
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABHD5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 43,760,903
GRCh38 3 43,719,411
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NC_000003.12:g.43719411G>A
NC_000003.11:g.43760903G>A
NM_016006.4:c.*879G>A
LRG_1174t1:c.*879G>A
More... 		06/14/2016 3 prime utr variant uncertain significance <1 / 1 000 000 Chanarin-Dorfman Syndrome; Disorder of cornification 12 (neutral lipid storage type); Dorfman-Chanarin disease; Ichthyosiform erythroderma with leukocyte vacuolation; Neutral lipid storage disease with ichthyotic; Triglyceride storage disease with impaired long-chain fatty acid oxidation
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ABHD5
Accession:NM_016006
Location:3UTRS;EXON

Gene Symbol:ABHD5
Accession:NM_001365649
Location:3UTRS;EXON

Gene Symbol:ABHD5
Accession:NM_001365650
Location:3UTRS;EXON

Gene Symbol:ABHD5
Accession:XM_047448243
Location:3UTRS;INTRON

Gene Symbol:ABHD5
Accession:NM_001355186
Location:3UTRS;INTRON

Gene Symbol:ABHD5
Accession:NR_158560
Location:EXON;NON-CODING

Gene Symbol:ABHD5
Accession:XR_007095689
Location:INTRON;NON-CODING

Gene Symbol:ABHD5
Accession:XR_007095691
Location:INTRON;NON-CODING

Gene Symbol:ABHD5
Accession:XR_007095690
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000318553 CLINVAR
dbSNP (RS) rs577414446 CLINVAR
MedGen C0268238 CLINVAR
NCBI Gene ABHD5 CLINVAR
OMIM 275630 CLINVAR
  604780 CLINVAR
SNOMED CT 19604005 CLINVAR