RGD:8575597 Rat Genome Database

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Variant: RGD:8575597 -  Homo sapiens

RGD ID: 8575597
ClinVar ID: CV109945
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: USH2A  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 216,360,571
GRCh38 1 216,187,229
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_206933.2:c.4396+2994G>C
NG_009497.1:g.241168G>C
NC_000001.11:g.216187229C>G
NC_000001.10:g.216360571C>G
intron|intron variant uncertain significance Lung cancer, somatic

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

Gene Symbol:USH2A
Accession:NM_007123
Location:INTRON

Variant Samples