RGD:28870253 Rat Genome Database

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Variant: RGD:28870253 -  Homo sapiens

RGD ID: 28870253
RS ID: rs931132506
ClinVar ID: CV871985
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SIX1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 61,111,921
GRCh38 14 60,645,203
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005982.4:c.*1080A>T
NC_000014.9:g.60645203T>A
NC_000014.8:g.61111921T>A
NM_005982.3:c.*1080A>T
More... 		01/13/2018 3 prime utr variant uncertain significance BO SYNDROME 3; Deafness, autosomal dominant 23
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SIX1
Accession:NM_005982
Location:3UTRS;EXON

Gene Symbol:SIX1
Accession:XM_017021602
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001111477 CLINVAR
  RCV001113477 CLINVAR
dbSNP (RS) rs931132506 CLINVAR
MedGen C1842124 CLINVAR
  C1854594 CLINVAR
NCBI Gene SIX1 CLINVAR
OMIM 601205 CLINVAR
  605192 CLINVAR
  608389 CLINVAR