RGD:13625388 Rat Genome Database

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Variant: RGD:13625388 -  Homo sapiens

RGD ID: 13625388
RS ID: rs540366779
ClinVar ID: CV515320
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC112577517  TOR1AIP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 179,852,100
GRCh38 1 179,882,965
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_042316.1:g.5924C>T
NC_000001.11:g.179882965C>T
NC_000001.10:g.179852100C>T
NP_001254507.1:p.His155Tyr
More... 		05/17/2019 missense variant uncertain significance Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures; Muscular dystrophy, limb-girdle, type 2y
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TOR1AIP1
Accession:NM_015602
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGDGRRAEAVREGWGVYVTPRAPIREGRGRLAPQNGGSSDAPAYRTPPSRQGRREVRFSDEPPEVYGDFEPLVAKERSP
VGKRTRLEEFRSDSAKEEVRESAYYLRSRQRRQPRPQETEEMKTRRTTRLQQQHSEQPPLQPSPVMTRRGLRDSYSSEED
EASSQTDLSQTISKKTVRSIQEAPVSEDLVIRLRRPPLRYPRYEATSVQQKVNFSEEGETEEDDQDSSHSSVTTVKARSR
DSDESGDKTTRSSSQYIESFWQSSQSQNFTAHDKQPSVLSSGYQKTPQEWAPQTARIRTRMQNDSILKSELGNQSPSTSS
RQVTGQPQNASFVKRNRWWLLPLIAALASGSFWFFSTPEVETTAVQEFQNQMNQLKNKYQGQDEKLWKRSQTFLEKHLNS
SHPRSQPAILLLTAARDAEEALRCLSEQIADAYSSFRSVRAIRIDGTDKATQDSDTVKLEVDQELSNGFKNGQNAAVVHR
FESFPAGSTLIFYKYCDHENAAFKDVALVLTVLLEEETLGTSLGLKEVEEKVRDFLKVKFTNSNTPNSYNHMDPDKLNGL
WSRISHLVLPVQPENALKRGICL*

Gene Symbol:TOR1AIP1
Accession:NM_001267578
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGDGRRAEAVREGWGVYVTPRAPIREGRGRLAPQNGGSSDAPAYRTPPSRQGRREVRFSDEPPEVYGDFEPLVAKERSP
VGKRTRLEEFRSDSAKEEVRESAYYLRSRQRRQPRPQETEEMKTRRTTRLQQQHSEQPPLQPSPVMTRRGLRDSYSSEED
EASSQTDLSQTISKKTVRSIQEAPAVSEDLVIRLRRPPLRYPRYEATSVQQKVNFSEEGETEEDDQDSSHSSVTTVKARS
RDSDESGDKTTRSSSQYIESFWQSSQSQNFTAHDKQPSVLSSGYQKTPQEWAPQTARIRTRMQNDSILKSELGNQSPSTS
SRQVTGQPQNASFVKRNRWWLLPLIAALASGSFWFFSTPEVETTAVQEFQNQMNQLKNKYQGQDEKLWKRSQTFLEKHLN
SSHPRSQPAILLLTAARDAEEALRCLSEQIADAYSSFRSVRAIRIDGTDKATQDSDTVKLEVDQELSNGFKNGQNAAVVH
RFESFPAGSTLIFYKYCDHENAAFKDVALVLTVLLEEETLGTSLGLKEVEEKVRDFLKVKFTNSNTPNSYNHMDPDKLNG
LWSRISHLVLPVQPENALKRGICL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000653381 CLINVAR
dbSNP (RS) rs540366779 CLINVAR
MedGen C4511482 CLINVAR
NCBI Gene LOC112577517 CLINVAR
  TOR1AIP1 CLINVAR
OMIM 614512 CLINVAR
  617072 CLINVAR