RGD:13537983 Rat Genome Database

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Variant: RGD:13537983 -  Homo sapiens

RGD ID: 13537983
RS ID: rs1554896788
ClinVar ID: CV504301
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ILK  LOC130005201  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 6,625,486
GRCh38 11 6,604,256
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_444:g.5523G>A
NG_029702.1:g.5523G>A
NC_000011.10:g.6604256G>A
NC_000011.9:g.6625486G>A
More... 		05/08/2017 5 prime utr variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ILK
Accession:NM_001278442
Location:5UTRS;EXON

Gene Symbol:ILK
Accession:XM_005252904
Location:5UTRS;EXON

Gene Symbol:ILK
Accession:XM_011520065
Location:5UTRS;EXON

Gene Symbol:ILK
Accession:XM_024448499
Location:5UTRS;EXON

Gene Symbol:ILK
Accession:NM_001278441
Location:5UTRS;EXON

Gene Symbol:ILK
Accession:NM_001014795
Location:5UTRS;EXON

Gene Symbol:ILK
Accession:XM_047426885
Location:5UTRS;EXON

Gene Symbol:ILK
Accession:NM_001014794
Location:5UTRS;EXON

Gene Symbol:ILK
Accession:XM_024448498
Location:5UTRS;EXON

Gene Symbol:ILK
Accession:NM_004517
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000611177 CLINVAR
dbSNP (RS) rs1554896788 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ILK CLINVAR
  LOC130005201 CLINVAR
OMIM 602366 CLINVAR