RGD:15109994 Rat Genome Database

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Variant: RGD:15109994 -  Homo sapiens

RGD ID: 15109994
RS ID: rs144539901
ClinVar ID: CV712294
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VIM  VIM-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 17,271,703
GRCh38 10 17,229,704
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000010.10:g.17271703C>T
NM_003380.5:c.282C>T
NG_012413.1:g.6446C>T
NC_000010.11:g.17229704C>T
More... 		11/09/2018 non-coding transcript variant benign CATARACT 30, PULVERULENT
Disease Annotations     Click to see Annotation Detail View
cataract 30  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:VIM
Accession:NM_003380
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTRSVSSSSYRRMFGGPGTASRPSSSRSYVTTSTRTYSLGSALRPSTSRSLYASSPGGVYATRSSAVRLRSSVPGVRLL
QDSVDFSLADAINTEFKNTRTNEKVELQELNDRFANYIDKVRFLEQQNKILLAELEQLKGQGKSRLGDLYEEEMRELRRQ
VDQLTNDKARVEVERDNLAEDIMRLREKLQEEMLQREEAENTLQSFRQDVDNASLARLDLERKVESLQEEIAFLKKLHEE
EIQELQAQIQEQHVQIDVDVSKPDLTAALRDVRQQYESVAAKNLQEAEEWYKSKFADLSEAANRNNDALRQAKQESTEYR
RQVQSLTCEVDALKGTNESLERQMREMEENFAVEAANYQDTIGRLQDEIQNMKEEMARHLREYQDLLNVKMALDIEIATY
RKLLEGEESRISLPLPNFSSLNLRETNLDSLPLVDTHSKRTLLIKTVETRDGQVINETSQHHDDLE*

Gene Symbol:VIM-AS1
Accession:NR_108061
Location:EXON;NON-CODING

Gene Symbol:VIM-AS1
Accession:NR_108060
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000960813 CLINVAR
dbSNP (RS) rs144539901 CLINVAR
MedGen C3805411 CLINVAR
NCBI Gene VIM CLINVAR
  VIM-AS1 CLINVAR
OMIM 116300 CLINVAR
  193060 CLINVAR
  619982 CLINVAR