RGD:28870343 Rat Genome Database

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Variant: RGD:28870343 -  Homo sapiens

RGD ID: 28870343
RS ID: rs1257715115
ClinVar ID: CV890685
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNGA1  LOC101927157  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 47,938,385
GRCh38 4 47,936,368
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000087.3:c.*53A>G
NG_009193.1:g.81577A>G
NC_000004.12:g.47936368T>C
NC_000004.11:g.47938385T>C
More... 		01/12/2018 3 prime utr variant uncertain significance Tapetoretinal degeneration
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CNGA1
Accession:NM_001379270
Location:3UTRS;EXON

Gene Symbol:CNGA1
Accession:XM_011513623
Location:3UTRS;EXON

Gene Symbol:CNGA1
Accession:XM_005248049
Location:3UTRS;EXON

Gene Symbol:CNGA1
Accession:NM_000087
Location:3UTRS;EXON

Gene Symbol:CNGA1
Accession:NM_001142564
Location:3UTRS;EXON

Gene Symbol:LOC101927157
Accession:NR_125879
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001145322 CLINVAR
dbSNP (RS) rs1257715115 CLINVAR
MedGen C0035334 CLINVAR
NCBI Gene 101927157 CLINVAR
  CNGA1 CLINVAR
OMIM 123825 CLINVAR
  268000 CLINVAR
SNOMED CT 28835009 CLINVAR