RGD:10050978 Rat Genome Database

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Variant: RGD:10050978 -  Homo sapiens

RGD ID: 10050978
RS ID: rs201747375
ClinVar ID: CV192749
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105370752  TRPM1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 31,325,153
GRCh38 15 31,032,950
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000015.10:g.31032950A>T
NC_000015.9:g.31325153A>T
NG_016453.2:g.133324T>A
NM_001252020.2:c.2752-10T>A
More... 		09/09/2020 intron variant conflicting interpretations of pathogenicity|uncertain significance Night blindness, congenital stationary (complete), 1C, autosomal recessive; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TRPM1
Accession:NM_001252024
Location:INTRON

Gene Symbol:TRPM1
Accession:NM_001252020
Location:INTRON

Gene Symbol:TRPM1
Accession:NM_002420
Location:INTRON

Gene Symbol:TRPM1
Accession:NM_001252030
Location:INTRON

Gene Symbol:LOC105370752
Accession:XR_932056
Location:INTRON;NON-CODING

Gene Symbol:LOC105370752
Accession:XR_932055
Location:INTRON;NON-CODING

Gene Symbol:LOC105370752
Accession:XR_007064555
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000176189 CLINVAR
  RCV001119986 CLINVAR
dbSNP (RS) rs201747375 CLINVAR
MedGen C2750747 CLINVAR
  C3661900 CLINVAR
NCBI Gene TRPM1 CLINVAR
OMIM 603576 CLINVAR
  613216 CLINVAR