RGD:28891365 Rat Genome Database

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Variant: RGD:28891365 -  Homo sapiens

RGD ID: 28891365
RS ID: rs192151525
ClinVar ID: CV875949
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHST6  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 75,507,390
GRCh38 16 75,473,492
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021615.5:c.*5149C>T
NG_016442.2:g.26950C>T
NC_000016.10:g.75473492G>A
NC_000016.9:g.75507390G>A
More... 		01/12/2018 3 prime utr variant uncertain significance 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_163480
Location:INTRON;NON-CODING

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001120956 CLINVAR
dbSNP (RS) rs192151525 CLINVAR
MedGen C1636149 CLINVAR
NCBI Gene CHST6 CLINVAR
OMIM 217800 CLINVAR
  605294 CLINVAR
SNOMED CT 418054005 CLINVAR