RGD:156034655 Rat Genome Database

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Variant: RGD:156034655 -  Homo sapiens

RGD ID: 156034655
ClinVar ID: CV2376697
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ASB14  LOC105377102  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 57,310,649
GRCh38 3 57,276,621
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001142733.3:c.1693C>A
NM_130387.5:c.838C>A
NC_000003.12:g.57276621G>T
NC_000003.11:g.57310649G>T
More... 		07/14/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ASB14
Accession:NM_001142733
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 565
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNYTSDEDIDEDFDTQLIIQQSLQDIYKPGTAQHAPKDESLHSFLSADYKKIVETIEKGKEDALSHLTKYHSAFGEADE
IGWIPLHKAAVQLNRKILEITLSASDPSLWEQTTHNGETPLFLAVSSCLLENATFLLLNGCNPNAKNFEGNSPLLAAVLR
DCYDMAALLINYGADVNLRCANERTALHEAAKLGREDMVKLMLVSGAHPDPQSTYGFTPLALAAQSGHTEIMEMLLRKGA
NAHGQASDSSSILLEAASGGNPDAVALLLEYGADANIPKNSGHLPIHVAADRGHLLALKILIPVTDLAAIKQSGISPVHC
AAAGAHPQCLELLIQAGFDVNFMLDQRINKHYDDHRKSALYFAVSNSDLSSVKLLLSAGALPNQDPVNCLQIALRMGNYE
LISLLLRHGANVNYFCRVNPLHFPSALQYTLKDEVMLRMLLNYGYDTERCFDCPHGDKVHPSYTVEGWTSTVIKDTKFCE
VITLSWLQHLSGKVVRVMLDYVDQVRICSKLKAVLQKQGIWSEIHFILTNPRSLKHLCRLKIRKCMGRLHLRCPVFMSFL
PLPNCLKAYVLYKEYDLYGQGIFTGTW*

Gene Symbol:ASB14
Accession:XM_017005737
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 565
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNYTSDEDIDEDFDTQLIIQQSLQDIYKPGTAQHAPKDESLHSFLSADYKKIVETIEKGKEDALSHLTKYHSAFGEADE
IGWIPLHKAAVQLNRKILEITLSASDPSLWEQTTHNGETPLFLAVSSCLLENATFLLLNGCNPNAKNFEGNSPLLAAVLR
DCYDMAALLINYGADVNLRCANERTALHEAAKLGREDMVKLMLVSGAHPDPQSTYGFTPLALAAQSGHTEIMEMLLRKGA
NAHGQASDSSSILLEAASGGNPDAVALLLEYGADANIPKNSGHLPIHVAADRGHLLALKILIPVTDLAAIKQSGISPVHC
AAAGAHPQCLELLIQAGFDVNFMLDQRINKHYDDHRKSALYFAVSNSDLSSVKLLLSAGALPNQDPVNCLQIALRMGNYE
LISLLLRHGANVNYFCRVNPLHFPSALQYTLKDEVMLRMLLNYGYDTERCFDCPHGDKVHPSYTVEGWTSTVIKDTKFCE
VITLSWLQHLSGKVVRVMLDYVDQVRICSKLKAVLQKQGIWSEIHFILTNPRSLKHLCRLKIRKCMGRLHLRCPVFMSFL
PLPNCLKAYVLYKEYDLYGQGIFTGTW*

Gene Symbol:ASB14
Accession:XM_017005736
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 565
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNYTSDEDIDEDFDTQLIIQQSLQDIYKPGTAQHAPKDESLHSFLSADYKKIVETIEKGKEDALSHLTKYHSAFGEADE
IGWIPLHKAAVQLNRKILEITLSASDPSLWEQTTHNGETPLFLAVSSCLLENATFLLLNGCNPNAKNFEGNSPLLAAVLR
DCYDMAALLINYGADVNLRCANERTALHEAAKLGREDMVKLMLVSGAHPDPQSTYGFTPLALAAQSGHTEIMEMLLRKGA
NAHGQASDSSSILLEAASGGNPDAVALLLEYGADANIPKNSGHLPIHVAADRGHLLALKILIPVTDLAAIKQSGISPVHC
AAAGAHPQCLELLIQAGFDVNFMLDQRINKHYDDHRKSALYFAVSNSDLSSVKLLLSAGALPNQDPVNCLQIALRMGNYE
LISLLLRHGANVNYFCRVNPLHFPSALQYTLKDEVMLRMLLNYGYDTERCFDCPHGDKVHPSYTVEGWTSTVIKDTKFCE
VITLSWLQHLSGKVVRVMLDYVDQVRICSKLKAVLQKQGIWSEIHFILTNPRSLKHLCRLKIRKCMGRLHLRCPVFMSFL
PLPNCLKAYVLYKEYDLYGQGIFTGTW*

Gene Symbol:ASB14
Accession:NM_130387
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKCILKFFLRALKILIPVTDLAAIKQSGISPVHCAAAGAHPQCLELLIQAGFDVNFMLDQRINKHYDDHRKSALYFAVS
NSDLSSVKLLLSAGALPNQDPVNCLQIALRMGNYELISLLLRHGANVNYFCRVNPLHFPSALQYTLKDEVMLRMLLNYGY
DTERCFDCPHGDKVHPSYTVEGWTSTVIKDTKFCEVITLSWLQHLSGKVVRVMLDYVDQVRICSKLKAVLQKQGIWSEIH
FILTNPRSLKHLCRLKIRKCMGRLHLRCPVFMSFLPLPNCLKAYVLYKEYDLYGQGIFTGTW*

Gene Symbol:LOC105377102
Accession:NR_135535
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004226984 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ASB14 CLINVAR
  LOC105377102 CLINVAR