RGD:11629559 Rat Genome Database

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Variant: RGD:11629559 -  Homo sapiens

RGD ID: 11629559
RS ID: rs376230028
ClinVar ID: CV350793
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABHD12  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 25,304,049
GRCh38 20 25,323,413
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_028119.1:g.72570A>T
NC_000020.11:g.25323413T>A
NC_000020.10:g.25304049T>A
NP_001035937.1:p.Ile112Phe
More... 		01/02/2020 missense variant 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_047440093
Location:5UTRS;EXON

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

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

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

Gene Symbol:ABHD12
Accession:NM_001042472
Location:EXON
Amino Acid Prediction: I to F (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL
GLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFFDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY
EDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPV
YIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKH
ISCPLLILHAEDDPVVPFQLGRKLYSIAAPARSFRDFKVQFVPFHSDLGYRHKYIYKSPELPRILREFLGKSEPEHQH*

Gene Symbol:ABHD12
Accession:XM_017027797
Location:EXON
Amino Acid Prediction: I to F (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL
GLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFFDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY
EDALASSHPIILYLHGNAGTRSSCVREAARSQHRGRPSTETGLLRGQGRGPVWHQGMSGLGANIL*

Gene Symbol:ABHD12
Accession:XM_047440088
Location:EXON
Amino Acid Prediction: I to F (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGGGHGGVCFLCCILLQGRKGVWLRLRKILFCVLGLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFFDLKKPQDQGLNHT
CNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWYEDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDY
RGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPVYIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSH
PFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKHISCPLLILHAEDDPVVPFQLGRKVGPGLCLWCSWHLAHSASVGGP
GWEWAGGKAAPACCITGCAPATSGSGGHLILPASPPGCFGRTWEVWCKGWGRGPLMLSPRI*

Gene Symbol:ABHD12
Accession:XM_011529214
Location:EXON
Amino Acid Prediction: I to F (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL
GLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFFDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY
EDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPV
YIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKH
ISCPLLILHAEDDPVVPFQLGRKLYSIAAPARSFRDFKVQFVPFHSDLGYRHKYIYKSPELPRILRGLKLVA*

Gene Symbol:ABHD12
Accession:NM_015600
Location:EXON
Amino Acid Prediction: I to F (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL
GLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFFDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY
EDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPV
YIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKH
ISCPLLILHAEDDPVVPFQLGRKLYSIAAPARSFRDFKVQFVPFHSDLGYRHKYIYKSPELPRILRPQQGPGSSPDPSMW
SELV*

Gene Symbol:ABHD12
Accession:XM_047440087
Location:EXON
Amino Acid Prediction: I to F (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL
GLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFFDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY
EDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPV
YIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKH
ISCPLLILHAEDDPVVPFQLGRKVGPGLCLWCSWHLAHSASVGGPGWEWAGGKAAPACCITGCAPATSGSGGHLILPASP
PGCFGRTWEVWCKGWGRGPLMLSPRI*

Gene Symbol:ABHD12
Accession:XM_047440089
Location:EXON
Amino Acid Prediction: I to F (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGGGHGGVCFLCCILLQGRKGVWLRLRKILFCVLGLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFFDLKKPQDQGLNHT
CNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWYEDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDY
RGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPVYIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSH
PFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKHISCPLLILHAEDDPVVPFQLGRKLYSIAAPARSFRDFKVQFVPFH
SDLGYRHKYIYKSPELPRILREFLGKSEPEHQH*

Gene Symbol:ABHD12
Accession:XM_047440090
Location:EXON
Amino Acid Prediction: I to F (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVL
GLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFFDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWY
EDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPV
YIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKH
ISCPLLILHAEDDPVVPFQLGRKGIPGEVGA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000326437 CLINVAR
  RCV001070173 CLINVAR
dbSNP (RS) rs376230028 CLINVAR
MedGen C2675204 CLINVAR
  C3661900 CLINVAR
NCBI Gene ABHD12 CLINVAR
OMIM 612674 CLINVAR
  613599 CLINVAR