RGD:8610858 Rat Genome Database

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Variant: RGD:8610858 -  Homo sapiens

RGD ID: 8610858
RS ID: rs138547759
ClinVar ID: CV57156
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: USH1C  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 17,526,182
GRCh38 11 17,504,635
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.10:g.17504635G>A
NC_000011.9:g.17526182G>A
c.2184+12C>T
NM_005709.4:c.1285-2655C>T
More... 		05/30/2020 intron|intron variant benign|likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:USH1C
Accession:XM_017017073
Location:INTRON

Gene Symbol:USH1C
Accession:XM_017017072
Location:INTRON

Gene Symbol:USH1C
Accession:XM_047426220
Location:INTRON

Gene Symbol:USH1C
Accession:XM_011519834
Location:INTRON

Gene Symbol:USH1C
Accession:XM_017017074
Location:INTRON

Gene Symbol:USH1C
Accession:NM_001297764
Location:INTRON

Gene Symbol:USH1C
Accession:NM_153676
Location:INTRON

Gene Symbol:USH1C
Accession:XM_047426221
Location:INTRON

Gene Symbol:USH1C
Accession:XM_017017075
Location:INTRON

Gene Symbol:USH1C
Accession:XM_047426219
Location:INTRON

Gene Symbol:USH1C
Accession:XM_011519832
Location:INTRON

Gene Symbol:USH1C
Accession:XM_047426222
Location:INTRON

Gene Symbol:USH1C
Accession:NM_005709
Location:INTRON

Gene Symbol:USH1C
Accession:NR_123738
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000041268 CLINVAR
  RCV001549713 CLINVAR
dbSNP (RS) rs138547759 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene USH1C CLINVAR
OMIM 605242 CLINVAR