RGD:38496948 Rat Genome Database

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Variant: RGD:38496948 -  Homo sapiens

RGD ID: 38496948
RS ID: rs1850950786
ClinVar ID: CV959984
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: USH1C  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 17,552,700
GRCh38 11 17,531,153
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.387+1G>C
NM_005709.4:c.387+1G>C
NM_153676.4:c.387+1G>C
NG_011883.2:g.18264G>C
More... 		07/09/2019 splice donor variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:USH1C
Accession:XM_011519834
Location:INTRON

Gene Symbol:USH1C
Accession:XM_047426221
Location:INTRON

Gene Symbol:USH1C
Accession:NM_001297764
Location:INTRON

Gene Symbol:USH1C
Accession:NM_153676
Location:INTRON

Gene Symbol:USH1C
Accession:XM_017017072
Location:INTRON

Gene Symbol:USH1C
Accession:XM_017017074
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:XM_047426219
Location:INTRON

Gene Symbol:USH1C
Accession:XM_017017073
Location:INTRON

Gene Symbol:USH1C
Accession:XM_047426220
Location:INTRON

Gene Symbol:USH1C
Accession:NM_005709
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:10973247   PMID:16199547   PMID:17407589   PMID:20301442   PMID:21203349   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001226761 CLINVAR
dbSNP (RS) rs1850950786 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene USH1C CLINVAR
OMIM 605242 CLINVAR