RGD:13789255 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:13789255 -  Homo sapiens

RGD ID: 13789255
RS ID: rs571304936
ClinVar ID: CV546533
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127820559  USH1C  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 17,517,225
GRCh38 11 17,495,678
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011883.2:g.53739G>T
NM_005709.3:c.1646+1080G>T
NC_000011.10:g.17495678C>A
NG_122018.1:g.273C>A
More...
09/06/2018 intron variant likely benign Autosomal recessive nonsyndromic hearing loss 18A; Deafness, autosomal recessive 18; Deafness, autosomal recessive 18A; 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:NM_153676
Location:INTRON

Gene Symbol:USH1C
Accession:NM_005709
Location:INTRON

Gene Symbol:USH1C
Accession:NM_001297764
Location:INTRON

Gene Symbol:USH1C
Accession:XM_011519832
Location:INTRON

Gene Symbol:USH1C
Accession:XM_011519834
Location:INTRON

Gene Symbol:USH1C
Accession:XM_017017075
Location:INTRON

Gene Symbol:USH1C
Accession:XM_017017073
Location:INTRON

Gene Symbol:USH1C
Accession:XM_017017074
Location:INTRON

Gene Symbol:USH1C
Accession:XM_017017072
Location:INTRON

Gene Symbol:USH1C
Accession:XM_047426221
Location:INTRON

Gene Symbol:USH1C
Accession:XM_047426219
Location:INTRON

Gene Symbol:USH1C
Accession:XM_047426222
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000665878 CLINVAR
  RCV000928159 CLINVAR
dbSNP (RS) rs571304936 CLINVAR
MedGen C1848604 CLINVAR
  C3661900 CLINVAR
NCBI Gene USH1C CLINVAR
OMIM 276904 CLINVAR
  602092 CLINVAR
  605242 CLINVAR