rs1167158496 Rat Genome Database

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Variant: rs1167158496 -  Homo sapiens

RGD ID: 13530510
RS ID: rs1167158496
ClinVar ID: CV512369
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: PIGN  
Reference Nucleotide: ACA
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 18 59,763,169 - 59,763,172
GRCh38 18 62,095,936 - 62,095,939
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_012327.6:c.2091_2093del
NP_789744.1:p.Val698del
NC_000018.9:g.59763170_59763172del
NP_036459.1:p.Val698del
More...
03/25/2015 inframe_deletion uncertain significance none provided
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV512369Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 


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Database
Acc Id
Source(s)
ClinVar RCV000622558 CLINVAR
  RCV001756019 CLINVAR
dbSNP (RS) rs1167158496 CLINVAR
MedGen C0950123 CLINVAR
  CN517202 CLINVAR
NCBI Gene PIGN CLINVAR
OMIM 606097 CLINVAR