RGD:156197074 Rat Genome Database

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Variant: RGD:156197074 -  Homo sapiens

RGD ID: 156197074
ClinVar ID: CV2024392
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: USH2A  USH2A-AS2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 216,258,233
GRCh38 1 216,084,891
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.4988-14A>G
NG_009497.2:g.343558A>G
NC_000001.11:g.216084891T>C
NC_000001.10:g.216258233T>C
 07/16/2022 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

Gene Symbol:USH2A-AS2
Accession:NR_125992
Location:INTRON;NON-CODING

Gene Symbol:USH2A-AS2
Accession:NR_125993
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002711274 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene USH2A CLINVAR
  USH2A-AS2 CLINVAR
OMIM 608400 CLINVAR