RGD:150547299 Rat Genome Database

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Variant: RGD:150547299 -  Homo sapiens

RGD ID: 150547299
RS ID: rs1894946571
ClinVar ID: CV1291966
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SIX1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 61,113,308
GRCh38 14 60,646,590
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000014.9:g.60646590G>A
NC_000014.8:g.61113308G>A
NG_008231.1:g.7848C>T
NM_005982.3:c.561-13C>T
More... 		11/03/2020 intron variant likely benign Deafness, autosomal dominant 23
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SIX1
Accession:NM_005982
Location:INTRON

Gene Symbol:SIX1
Accession:XM_017021602
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001733632 CLINVAR
dbSNP (RS) rs1894946571 CLINVAR
MedGen C1854594 CLINVAR
NCBI Gene SIX1 CLINVAR
OMIM 601205 CLINVAR
  605192 CLINVAR