RGD:405219887 Rat Genome Database

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Variant: RGD:405219887 -  Homo sapiens

RGD ID: 405219887
ClinVar ID: CV3045864
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: USH2A  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 216,051,240
GRCh38 1 215,877,898
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_206933.4:c.8559-18G>C
NG_009497.2:g.550551G>C
NC_000001.11:g.215877898C>G
NC_000001.10:g.216051240C>G
 10/25/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:USH2A
Accession:NM_206933
Location:INTRON

Gene Symbol:USH2A
Accession:NM_007123
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003733061 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene USH2A CLINVAR
OMIM 608400 CLINVAR