RGD:8596775 Rat Genome Database

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Variant: RGD:8596775 -  Homo sapiens

RGD ID: 8596775
RS ID: rs28939077
ClinVar ID: CV20389
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABHD5  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 43,743,962
GRCh38 3 43,702,470
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.43702470A>C
NC_000003.11:g.43743962A>C
NP_057090.2:p.Gln130Pro
Q8WTS1:p.Gln130Pro
More... 		01/18/2013 missense|missense variant pathogenic <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:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAEEEEVDSADTGERSGWLTGWLPTWCPTSISHLKEAEEKMLKCVPCTYKKEPVRISNGNKIWTLKFSHNISNKTPLVL
LHGFGGGLGLWALNFGDLCTNRPVYAFDLLGFGRSSRPRFDSDAEEVENPFVESIEEWRCALGLDKMILLGHNLGGFLAA
AYSLKYPSRVNHLILVEPWGFPERPDLADQDRPIPVWIRALGAALTPFNPLAGLRIAGPFGLSLVQRLRPDFKRKYSSMF
EDDTVTEYIYHCNVQTPSGETAFKNMTIPYGWAKRPMLQRIGKMHPDIPVSVIFGARSCIDGNSGTSIQSLRPHSYVKTI
AILGAGHYVYADQPEEFNQKVKEICDTVD*

Gene Symbol:ABHD5
Accession:NM_001365650
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAEEEEVDSADTGERSGWLTGWLPTWCPTSISHLKEAEEKMLKCVPCTYKKEPVRISNGNKIWTLKFSHNISNKTPLVL
LHGFGGGLGLWALNFGDLCTNRPVYAFDLLGFGRSSRPRFDSDAEEVENPFVESIEEWRCALGLDKMILLGHNLGGFLAA
AYSLKYPSRVNHLILVEPWGFPERPDLADQDRPIPVWIRALGAALTPFNPLAGLRIAGPFGLSLVQRLRPDFKRKYSSMF
EDDTVTEYIYHCNVQTPRLFLGQDIMYMQINQKNSTRK*

Gene Symbol:ABHD5
Accession:XM_047448243
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAEEEEVDSADTGERSGWLTGWLPTWCPTSISHLKEAEEKMLKCVPCTYKKEPVRISNGNKIWTLKFSHNISNKTPLVL
LHGFGGGLGLWALNFGDLCTNRPVYAFDLLGFGRSSRPRFDSDAEEVENPFVESIEEWRCALGLDKMILLGHNLGGFLAA
AYSLKYPSRVNHLILVEPWGFPERPDLADQDRPIPVWIRALGAALTPFNPLAGLRIAGPFGLSLVQRLRPDFKRKYSSMF
EDDTVTEYIYHCNVQTPSGETAFKNMTIPYGWAKRPMLQRIGKMHPDIPVSVIFGARSCIDGNSGTSIQSLRPHSYVKTI
AILGAGHYVYADQPEEFNQKVKEICDTVD*

Gene Symbol:ABHD5
Accession:NM_001365649
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 89
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKCVPCTYKKEPVRISNGNKIWTLKFSHNISNKTPLVLLHGFGGGLGLWALNFGDLCTNRPVYAFDLLGFGRSSRPRFD
SDAEEVENPFVESIEEWRCALGLDKMILLGHNLGGFLAAAYSLKYPSRVNHLILVEPWGFPERPDLADQDRPIPVWIRAL
GAALTPFNPLAGLRIAGPFGLSLVQRLRPDFKRKYSSMFEDDTVTEYIYHCNVQTPSGETAFKNMTIPYGWAKRPMLQRI
GKMHPDIPVSVIFGARSCIDGNSGTSIQSLRPHSYVKTIAILGAGHYVYADQPEEFNQKVKEICDTVD*

Gene Symbol:ABHD5
Accession:NM_001355186
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAEEEEVDSADTGERSGWLTGWLPTWCPTSISHLKEAEEKMLKCVPCTYKKEPVRISNGNKIWTLKFSHNISNKTPLVL
LHGFGGGLGLWALNFGDLCTNRPVYAFDLLGFGRSSRPRFDSDAEEVENPFVESIEEWRCALGLDKMILLGHNLGGFLAA
AYSLKYPSRVNHLILVEPWGFPERPDLADQDRPIPVWIRALGAALTPFNPLAGLRIAGPFGLSLVQRLRPDFKRKYSSMF
EDDTVTEYIYHCNVQTPSGETAFKNMTIPYGWAKRPMLQRIGKMHPDIPVSVIFGARSCIDGNSGTSIQSLRPHSYVKTI
AILGAGHYVYADQPEEFNQKVKEICDTVD*

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:11590543   PMID:15136565  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000005679 CLINVAR
dbSNP (RS) rs28939077 CLINVAR
MedGen C0268238 CLINVAR
NCBI Gene ABHD5 CLINVAR
OMIM 275630 CLINVAR
  604780 CLINVAR
OMIM Allele 604780.0004 CLINVAR
SNOMED CT 19604005 CLINVAR