RGD:8559194 Rat Genome Database

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Variant: RGD:8559194 -  Homo sapiens

RGD ID: 8559194
RS ID: rs766862238
ClinVar ID: CV21262
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRPM1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 31,334,152
GRCh38 15 31,041,949
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_002420.6:c.2021+2T>C
NC_000015.9:g.31334152A>G
NM_001252024.2:c.2087+2T>C
NM_001252020.2:c.2138+2T>C
More... 		04/25/2012 splice donor variant pathogenic neonatal/infancy Night blindness, congenital stationary (complete), 1C, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TRPM1
Accession:NM_001252020
Location:INTRON

Gene Symbol:TRPM1
Accession:NM_002420
Location:INTRON

Gene Symbol:TRPM1
Accession:NM_001252024
Location:INTRON

Gene Symbol:TRPM1
Accession:NM_001252030
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:19878917  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000006601 CLINVAR
dbSNP (RS) rs766862238 CLINVAR
MedGen C2750747 CLINVAR
NCBI Gene TRPM1 CLINVAR
OMIM 603576 CLINVAR
  613216 CLINVAR
OMIM Allele 603576.0001 CLINVAR