RGD:9689785 Rat Genome Database

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Variant: RGD:9689785 -  Homo sapiens

RGD ID: 9689785
RS ID: rs202095395
ClinVar ID: CV175827
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: USH1C  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 17,547,890
GRCh38 11 17,526,343
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.17526343C>T
NC_000011.9:g.17547890C>T
NM_005709.3:c.674+4G>A
NM_005709.4:c.674+4G>A
More... 		01/17/2019 intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; none provided; Usher syndrome, Acadian variety; USHER SYNDROME, TYPE I, ACADIAN VARIETY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:USH1C
Accession:XM_047426221
Location:INTRON

Gene Symbol:USH1C
Accession:NM_153676
Location:INTRON

Gene Symbol:USH1C
Accession:XM_017017074
Location:INTRON

Gene Symbol:USH1C
Accession:XM_047426222
Location:INTRON

Gene Symbol:USH1C
Accession:NM_005709
Location:INTRON

Gene Symbol:USH1C
Accession:NM_001297764
Location:INTRON

Gene Symbol:USH1C
Accession:XM_047426219
Location:INTRON

Gene Symbol:USH1C
Accession:XM_011519832
Location:INTRON

Gene Symbol:USH1C
Accession:XM_047426220
Location:INTRON

Gene Symbol:USH1C
Accession:XM_017017073
Location:INTRON

Gene Symbol:USH1C
Accession:XM_011519834
Location:INTRON

Gene Symbol:USH1C
Accession:XM_017017075
Location:INTRON

Gene Symbol:USH1C
Accession:XM_017017072
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000155397 CLINVAR
  RCV000726548 CLINVAR
  RCV001103386 CLINVAR
dbSNP (RS) rs202095395 CLINVAR
MedGen C1848604 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene USH1C CLINVAR
OMIM 276904 CLINVAR
  605242 CLINVAR