rs558843739 Rat Genome Database

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Variant: rs558843739 -  Homo sapiens

RGD ID: 28902273
RS ID: rs558843739
ClinVar ID: CV893122
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DIAPH1  LOC127404090  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 140,896,093
GRCh38 5 141,516,526
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001079812.3:c.*325G>C
NM_005219.5:c.*325G>C
NM_001314007.2:c.*444G>C
NG_011594.2:g.107530G>C
More... 		01/13/2018 3 prime utr variant likely benign Deafness, autosomal dominant 1; DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA; KONIGSMARK SYNDROME
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV893122Humanautosomal dominant nonsyndromic deafness 1  IAGP 8554872ClinVar Annotator: match by term: Deafness, autosomal dominant 1ClinVar 
Gene Symbol:DIAPH1
Accession:NM_001079812
Location:3UTRS;EXON

Gene Symbol:DIAPH1
Accession:NM_005219
Location:3UTRS;EXON

Gene Symbol:DIAPH1
Accession:NM_001314007
Location:3UTRS;EXON

Gene Symbol:DIAPH1
Accession:XM_047416885
Location:3UTRS;EXON

Gene Symbol:DIAPH1
Accession:XM_047416884
Location:3UTRS;EXON

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Database
Acc Id
Source(s)
ClinVar RCV001157060 CLINVAR
dbSNP (RS) rs558843739 CLINVAR
MedGen C1852282 CLINVAR
NCBI Gene DIAPH1 CLINVAR
OMIM 124900 CLINVAR
  602121 CLINVAR