RGD:11592463 Rat Genome Database

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Variant: RGD:11592463 -  Homo sapiens

RGD ID: 11592463
RS ID: rs144420157
ClinVar ID: CV290374
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABHD5  ANO10  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 43,732,510
GRCh38 3 43,691,018
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.43691018A>G
NC_000003.11:g.43732510A>G
NP_057090.2:p.Asp9Gly
NM_016006.4:c.26A>G
More... 		03/01/2022 intron variant|missense variant likely benign|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; none provided; Triglyceride storage disease with impaired long-chain fatty acid oxidation
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ANO10
Accession:NM_001346468
Location:5UTRS;INTRON

Gene Symbol:ANO10
Accession:NM_001346469
Location:5UTRS;INTRON

Gene Symbol:ABHD5
Accession:NM_001365650
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAEEEEVGSADTGERSGWLTGWLPTWCPTSISHLKEAEEKMLKCVPCTYKKEPVRISNGNKIWTLKFSHNISNKTPLVL
LHGFGGGLGLWALNFGDLCTNRPVYAFDLLGFGRSSRPRFDSDAEEVENQFVESIEEWRCALGLDKMILLGHNLGGFLAA
AYSLKYPSRVNHLILVEPWGFPERPDLADQDRPIPVWIRALGAALTPFNPLAGLRIAGPFGLSLVQRLRPDFKRKYSSMF
EDDTVTEYIYHCNVQTPRLFLGQDIMYMQINQKNSTRK*

Gene Symbol:ABHD5
Accession:XM_047448243
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAEEEEVGSADTGERSGWLTGWLPTWCPTSISHLKEAEEKMLKCVPCTYKKEPVRISNGNKIWTLKFSHNISNKTPLVL
LHGFGGGLGLWALNFGDLCTNRPVYAFDLLGFGRSSRPRFDSDAEEVENQFVESIEEWRCALGLDKMILLGHNLGGFLAA
AYSLKYPSRVNHLILVEPWGFPERPDLADQDRPIPVWIRALGAALTPFNPLAGLRIAGPFGLSLVQRLRPDFKRKYSSMF
EDDTVTEYIYHCNVQTPSGETAFKNMTIPYGWAKRPMLQRIGKMHPDIPVSVIFGARSCIDGNSGTSIQSLRPHSYVKTI
AILGAGHYVYADQPEEFNQKVKEICDTVD*

Gene Symbol:ABHD5
Accession:NM_001355186
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAEEEEVGSADTGERSGWLTGWLPTWCPTSISHLKEAEEKMLKCVPCTYKKEPVRISNGNKIWTLKFSHNISNKTPLVL
LHGFGGGLGLWALNFGDLCTNRPVYAFDLLGFGRSSRPRFDSDAEEVENQFVESIEEWRCALGLDKMILLGHNLGGFLAA
AYSLKYPSRVNHLILVEPWGFPERPDLADQDRPIPVWIRALGAALTPFNPLAGLRIAGPFGLSLVQRLRPDFKRKYSSMF
EDDTVTEYIYHCNVQTPSGETAFKNMTIPYGWAKRPMLQRIGKMHPDIPVSVIFGARSCIDGNSGTSIQSLRPHSYVKTI
AILGAGHYVYADQPEEFNQKVKEICDTVD*

Gene Symbol:ABHD5
Accession:NM_016006
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAEEEEVGSADTGERSGWLTGWLPTWCPTSISHLKEAEEKMLKCVPCTYKKEPVRISNGNKIWTLKFSHNISNKTPLVL
LHGFGGGLGLWALNFGDLCTNRPVYAFDLLGFGRSSRPRFDSDAEEVENQFVESIEEWRCALGLDKMILLGHNLGGFLAA
AYSLKYPSRVNHLILVEPWGFPERPDLADQDRPIPVWIRALGAALTPFNPLAGLRIAGPFGLSLVQRLRPDFKRKYSSMF
EDDTVTEYIYHCNVQTPSGETAFKNMTIPYGWAKRPMLQRIGKMHPDIPVSVIFGARSCIDGNSGTSIQSLRPHSYVKTI
AILGAGHYVYADQPEEFNQKVKEICDTVD*

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

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

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

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

Gene Symbol:ANO10
Accession:XM_047448430
Location:INTRON

Gene Symbol:ANO10
Accession:NM_001346467
Location:INTRON

Gene Symbol:ANO10
Accession:NM_001204834
Location:INTRON

Gene Symbol:ANO10
Accession:XM_011533885
Location:INTRON

Gene Symbol:ANO10
Accession:XM_047448428
Location:INTRON

Gene Symbol:ANO10
Accession:XM_047448434
Location:INTRON

Gene Symbol:ANO10
Accession:NM_018075
Location:INTRON

Gene Symbol:ANO10
Accession:NM_001204831
Location:INTRON

Gene Symbol:ANO10
Accession:XM_047448432
Location:INTRON

Gene Symbol:ANO10
Accession:NM_001204833
Location:INTRON

Gene Symbol:ANO10
Accession:XM_011533889
Location:INTRON

Gene Symbol:ANO10
Accession:NM_001346464
Location:INTRON

Gene Symbol:ANO10
Accession:XM_017006718
Location:INTRON

Gene Symbol:ANO10
Accession:XM_047448429
Location:INTRON

Gene Symbol:ANO10
Accession:NM_001346466
Location:INTRON

Gene Symbol:ANO10
Accession:XM_047448431
Location:INTRON

Gene Symbol:ANO10
Accession:XM_047448433
Location:INTRON

Gene Symbol:ANO10
Accession:XM_011533890
Location:INTRON

Gene Symbol:ANO10
Accession:NM_001346463
Location:INTRON

Gene Symbol:ANO10
Accession:XM_047448435
Location:INTRON

Gene Symbol:ANO10
Accession:NM_001346465
Location:INTRON

Gene Symbol:ANO10
Accession:XM_024453616
Location:INTRON

Gene Symbol:ABHD5
Accession:NM_001365649
Location:INTRON

Gene Symbol:ANO10
Accession:NM_001204832
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000338649 CLINVAR
  RCV000907603 CLINVAR
  RCV003972456 CLINVAR
dbSNP (RS) rs144420157 CLINVAR
MedGen C0268238 CLINVAR
  C3661900 CLINVAR
NCBI Gene ABHD5 CLINVAR
  ANO10 CLINVAR
OMIM 275630 CLINVAR
  604780 CLINVAR
  613726 CLINVAR
SNOMED CT 19604005 CLINVAR