RGD:150426408 Rat Genome Database

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Variant: RGD:150426408 -  Homo sapiens

RGD ID: 150426408
RS ID: rs374794188
ClinVar ID: CV1187706
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: USH1C  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 17,565,885
GRCh38 11 17,544,338
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001297764.2:c.-31G>T
NM_005709.4:c.-31G>T
NM_153676.4:c.-31G>T
NG_033191.2:g.1966C>A
More... 		06/16/2020 5 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:USH1C
Accession:NM_153676
Location:5UTRS;EXON

Gene Symbol:USH1C
Accession:XM_011519834
Location:5UTRS;EXON

Gene Symbol:USH1C
Accession:XM_017017073
Location:5UTRS;EXON

Gene Symbol:USH1C
Accession:XM_047426222
Location:5UTRS;EXON

Gene Symbol:USH1C
Accession:NM_005709
Location:5UTRS;EXON

Gene Symbol:USH1C
Accession:XM_011519832
Location:5UTRS;EXON

Gene Symbol:USH1C
Accession:XM_017017075
Location:5UTRS;EXON

Gene Symbol:USH1C
Accession:XM_017017072
Location:5UTRS;EXON

Gene Symbol:USH1C
Accession:NM_001297764
Location:5UTRS;EXON

Gene Symbol:USH1C
Accession:XM_017017074
Location:5UTRS;EXON

Gene Symbol:USH1C
Accession:XM_047426221
Location:5UTRS;EXON

Gene Symbol:USH1C
Accession:XM_047426219
Location:5UTRS;EXON

Gene Symbol:USH1C
Accession:XM_047426220
Location:5UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001559542 CLINVAR
dbSNP (RS) rs374794188 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene USH1C CLINVAR
OMIM 605242 CLINVAR