RGD:10450078 Rat Genome Database

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Variant: RGD:10450078 -  Homo sapiens

RGD ID: 10450078
RS ID: rs767146880
ClinVar ID: CV215638
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MIR204  TRPM3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 73,424,964
GRCh38 9 70,810,048
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.12:g.70810048G>A
NC_000009.11:g.73424964G>A
NM_001366143.2:c.979+17799C>T
NM_001366147.2:c.1048+1122C>T
More... 		05/20/2022 intron variant|non-coding transcript variant pathogenic none provided; Retinal dystrophy and iris coloboma with or without congenital cataract
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MIR204
Accession:NR_029621
Location:EXON;NON-CODING

Gene Symbol:TRPM3
Accession:NM_001366142
Location:INTRON

Gene Symbol:TRPM3
Accession:NM_001366154
Location:INTRON

Gene Symbol:TRPM3
Accession:NM_001366141
Location:INTRON

Gene Symbol:TRPM3
Accession:NM_206947
Location:INTRON

Gene Symbol:TRPM3
Accession:NM_001007470
Location:INTRON

Gene Symbol:TRPM3
Accession:NM_001366152
Location:INTRON

Gene Symbol:TRPM3
Accession:NM_206946
Location:INTRON

Gene Symbol:TRPM3
Accession:NM_001366145
Location:INTRON

Gene Symbol:TRPM3
Accession:NM_001366144
Location:INTRON

Gene Symbol:TRPM3
Accession:NM_001366151
Location:INTRON

Gene Symbol:TRPM3
Accession:NM_001366153
Location:INTRON

Gene Symbol:TRPM3
Accession:NM_024971
Location:INTRON

Gene Symbol:TRPM3
Accession:NM_001366149
Location:INTRON

Gene Symbol:TRPM3
Accession:NM_001366147
Location:INTRON

Gene Symbol:TRPM3
Accession:NM_001366143
Location:INTRON

Gene Symbol:TRPM3
Accession:NM_206945
Location:INTRON

Gene Symbol:TRPM3
Accession:NM_001366150
Location:INTRON

Gene Symbol:TRPM3
Accession:NM_206948
Location:INTRON

Gene Symbol:TRPM3
Accession:NM_001007471
Location:INTRON

Gene Symbol:TRPM3
Accession:NM_001366148
Location:INTRON

Gene Symbol:TRPM3
Accession:NM_206944
Location:INTRON

Gene Symbol:TRPM3
Accession:NM_020952
Location:INTRON

Gene Symbol:TRPM3
Accession:NM_001366146
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:26056285   PMID:28492532   PMID:37321975  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000203227 CLINVAR
  RCV002517361 CLINVAR
dbSNP (RS) rs767146880 CLINVAR
MedGen C3661900 CLINVAR
  C4225233 CLINVAR
NCBI Gene MIR204 CLINVAR
  TRPM3 CLINVAR
OMIM 608961 CLINVAR
  610942 CLINVAR
  616722 CLINVAR
OMIM Allele 610942.0001 CLINVAR