rs748640419 Rat Genome Database

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Variant: rs748640419 -  Homo sapiens

RGD ID: 151818744
RS ID: rs748640419
ClinVar ID: CV1390622
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ILK  TAF10  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 6,631,691
GRCh38 11 6,610,460
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_006284.4:c.*462T>C
NM_001278441.2:c.1027-2A>G
NM_001014794.3:c.1210-2A>G
NM_001014795.3:c.1210-2A>G
More... 		10/23/2023 3 prime utr variant uncertain significance Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1390622Humanfamilial hypertrophic cardiomyopathy  IAGP 8554872ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathyClinVarPMID:17576681|PMID:28492532|PMID:9536098
Gene Symbol:TAF10
Accession:NM_006284
Location:3UTRS;EXON

Gene Symbol:ILK
Accession:NM_004517
Location:INTRON

Gene Symbol:ILK
Accession:NM_001014794
Location:INTRON

Gene Symbol:ILK
Accession:NM_001014795
Location:INTRON

Gene Symbol:ILK
Accession:NM_001278441
Location:INTRON

Gene Symbol:ILK
Accession:NM_001278442
Location:INTRON

Gene Symbol:ILK
Accession:XM_005252904
Location:INTRON

Gene Symbol:ILK
Accession:XM_011520065
Location:INTRON

Gene Symbol:ILK
Accession:XM_024448499
Location:INTRON

Gene Symbol:ILK
Accession:XM_024448498
Location:INTRON

Gene Symbol:ILK
Accession:XM_047426885
Location:INTRON

.
PMID:9536098   PMID:17576681   PMID:28492532  



1 to 9 of 9 rows
Database
Acc Id
Source(s)
ClinVar RCV001954545 CLINVAR
dbSNP (RS) rs748640419 CLINVAR
MedGen C0949658 CLINVAR
NCBI Gene ILK CLINVAR
  TAF10 CLINVAR
OMIM 192600 CLINVAR
  600475 CLINVAR
  602366 CLINVAR
SNOMED CT 83978005 CLINVAR
1 to 9 of 9 rows