RGD:11659050 Rat Genome Database

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Variant: RGD:11659050 -  Homo sapiens

RGD ID: 11659050
RS ID: rs886052293
ClinVar ID: CV336066
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHST6  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 75,507,087
GRCh38 16 75,473,189
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_021615.5:c.*5452G>C
NC_000016.10:g.75473189C>G
NC_000016.9:g.75507087C>G
NM_021615.4:c.*5452G>C
More... 		06/14/2016 3 prime utr variant uncertain significance all ages 1-9 / 100 000 Groenouw type II corneal dystrophy; Macular corneal dystrophy Type I; Macular dystrophy, corneal type 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHST6
Accession:NM_021615
Location:3UTRS;EXON

Gene Symbol:CHST6
Accession:NR_163481
Location:EXON;NON-CODING

Gene Symbol:CHST6
Accession:NR_163480
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000354191 CLINVAR
dbSNP (RS) rs886052293 CLINVAR
MedGen C1636149 CLINVAR
NCBI Gene CHST6 CLINVAR
OMIM 217800 CLINVAR
  605294 CLINVAR
SNOMED CT 418054005 CLINVAR