RGD:150413871 Rat Genome Database

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Variant: RGD:150413871 -  Homo sapiens

RGD ID: 150413871
RS ID: rs553257705
ClinVar ID: CV1177425
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: USH1C  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 17,515,878
GRCh38 11 17,494,331
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_153676.4:c.*1G>C
NM_001297764.2:c.*33G>C
NC_000011.9:g.17515878C>G
NR_123738.2:n.1727G>C
More... 		10/18/2020 3 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:USH1C
Accession:NM_001297764
Location:3UTRS;EXON

Gene Symbol:USH1C
Accession:NM_005709
Location:3UTRS;EXON

Gene Symbol:USH1C
Accession:XM_011519832
Location:3UTRS;EXON

Gene Symbol:USH1C
Accession:NM_153676
Location:EXON

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

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_047426222
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_017017072
Location:INTRON

Gene Symbol:USH1C
Accession:XM_017017074
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001547930 CLINVAR
dbSNP (RS) rs553257705 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene USH1C CLINVAR
OMIM 605242 CLINVAR