RGD:28886783 Rat Genome Database

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Variant: RGD:28886783 -  Homo sapiens

RGD ID: 28886783
RS ID: rs371418239
ClinVar ID: CV885938
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABHD12  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 25,282,968
GRCh38 20 25,302,332
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000020.11:g.25302332G>A
NM_001042472.2:c.1044C>T
NP_001035937.1:p.Ala348=
NP_056415.1:p.Ala348=
More... 		07/22/2021 synonymous variant likely benign|uncertain significance 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_047440092
Location:3UTRS;EXON

Gene Symbol:ABHD12
Accession:XM_047440088
Location:3UTRS;EXON

Gene Symbol:ABHD12
Accession:XM_047440087
Location:3UTRS;EXON

Gene Symbol:ABHD12
Accession:XM_047440091
Location:3UTRS;EXON

Gene Symbol:ABHD12
Accession:XM_047440094
Location:3UTRS;EXON

Gene Symbol:ABHD12
Accession:XM_011529214
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 348
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL
GLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY
EDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPV
YIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKH
ISCPLLILHAEDDPVVPFQLGRKLYSIAAPARSFRDFKVQFVPFHSDLGYRHKYIYKSPELPRILRGLKLVA*

Gene Symbol:ABHD12
Accession:XM_047440093
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 191
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWYEDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGD
NPVYIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDEN
VKHISCPLLILHAEDDPVVPFQLGRKLYSIAAPARSFRDFKVQFVPFHSDLGYRHKYIYKSPELPRILREFLGKSEPEHQ
H*

Gene Symbol:ABHD12
Accession:NM_001042472
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 348
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL
GLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY
EDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPV
YIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKH
ISCPLLILHAEDDPVVPFQLGRKLYSIAAPARSFRDFKVQFVPFHSDLGYRHKYIYKSPELPRILREFLGKSEPEHQH*

Gene Symbol:ABHD12
Accession:NM_015600
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 348
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL
GLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY
EDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPV
YIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKH
ISCPLLILHAEDDPVVPFQLGRKLYSIAAPARSFRDFKVQFVPFHSDLGYRHKYIYKSPELPRILRPQQGPGSSPDPSMW
SELV*

Gene Symbol:ABHD12
Accession:XM_047440089
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 303
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGGGHGGVCFLCCILLQGRKGVWLRLRKILFCVLGLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHT
CNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWYEDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDY
RGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPVYIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSH
PFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKHISCPLLILHAEDDPVVPFQLGRKLYSIAAPARSFRDFKVQFVPFH
SDLGYRHKYIYKSPELPRILREFLGKSEPEHQH*

Gene Symbol:ABHD12
Accession:XM_047440090
Location:INTRON

Gene Symbol:ABHD12
Accession:XM_017027797
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001137913 CLINVAR
  RCV002070617 CLINVAR
  RCV003898133 CLINVAR
dbSNP (RS) rs371418239 CLINVAR
MedGen C2675204 CLINVAR
  C3661900 CLINVAR
NCBI Gene ABHD12 CLINVAR
OMIM 612674 CLINVAR
  613599 CLINVAR