RGD:9689710 Rat Genome Database

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Variant: RGD:9689710 -  Homo sapiens

RGD ID: 9689710
RS ID: rs150567427
ClinVar ID: CV175818
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: USH1C  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 17,527,497
GRCh38 11 17,505,950
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.17505950C>T
NC_000011.9:g.17527497C>T
NM_005709.4:c.1285-3970G>A
NM_153676.4:c.2014-1G>A
More... 		03/19/2022 intron variant|splice acceptor variant pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; none provided; Retinitis pigmentosa and congenital deafness; Usher syndrome, Acadian variety; USHER SYNDROME, TYPE I, ACADIAN VARIETY; Usher syndrome, type I, French variety
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:USH1C
Accession:XM_017017073
Location:3UTRS;EXON

Gene Symbol:USH1C
Accession:XM_017017072
Location:3UTRS;EXON

Gene Symbol:USH1C
Accession:XM_017017074
Location:3UTRS;EXON

Gene Symbol:USH1C
Accession:NM_005709
Location:INTRON

Gene Symbol:USH1C
Accession:XM_047426219
Location:INTRON

Gene Symbol:USH1C
Accession:XM_011519834
Location:INTRON

Gene Symbol:USH1C
Accession:XM_047426222
Location:INTRON

Gene Symbol:USH1C
Accession:XM_011519832
Location:INTRON

Gene Symbol:USH1C
Accession:XM_017017075
Location:INTRON

Gene Symbol:USH1C
Accession:NM_153676
Location:INTRON

Gene Symbol:USH1C
Accession:NM_001297764
Location:INTRON

Gene Symbol:USH1C
Accession:XM_047426221
Location:INTRON

Gene Symbol:USH1C
Accession:XM_047426220
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000155314 CLINVAR
  RCV000725400 CLINVAR
  RCV001004553 CLINVAR
  RCV002290962 CLINVAR
dbSNP (RS) rs150567427 CLINVAR
MedGen C1568247 CLINVAR
  C1848604 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene USH1C CLINVAR
OMIM 276900 CLINVAR
  276904 CLINVAR
  605242 CLINVAR