RGD:11622156 Rat Genome Database

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Variant: RGD:11622156 -  Homo sapiens

RGD ID: 11622156
RS ID: rs751355642
ClinVar ID: CV331443
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRPM1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 31,330,058
GRCh38 15 31,037,855
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016453.2:g.128419C>A
NC_000015.10:g.31037855G>T
NC_000015.9:g.31330058G>T
NM_002420.6:c.2374-13C>A
More...
01/12/2018 intron variant uncertain significance 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_002420
Location:INTRON

Gene Symbol:TRPM1
Accession:NM_001252020
Location:INTRON

Gene Symbol:TRPM1
Accession:NM_001252024
Location:INTRON

Gene Symbol:TRPM1
Accession:NM_001252030
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000356861 CLINVAR
dbSNP (RS) rs751355642 CLINVAR
MedGen C2750747 CLINVAR
NCBI Gene TRPM1 CLINVAR
OMIM 603576 CLINVAR
  613216 CLINVAR