RGD:151889314 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:151889314 -  Homo sapiens

RGD ID: 151889314
RS ID: rs2151666243
ClinVar ID: CV1398769
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHST6  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 75,513,420
GRCh38 16 75,479,522
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1252t1:c.307G>A
NM_021615.5:c.307G>A
LRG_1252:g.20920G>A
NG_016442.2:g.20920G>A
More...
08/24/2021 missense 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:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWLPRVSSTAVTALLLAQTFLLLFLVSRPGPSSPAGGEARVHVLVLSSWRSGSSFVGQLFNQHPDVFYLMEPAWHVWTTL
SQGSAATLHMAVRDLVRSVFLCNMDVFDAYLPWRRNLSDLFQWAVSRALCSPPACSAFPRGAISSEAVCKPLCARQSFTL
AREACRSYSHVVLKEVRFFNLQVLYPLLSDPALNLRIVHLVRDPRAVLRSREQTAKALARDNGIVLGTNGTWVEADPGLR
VVREVCRSHVRIAEAATLKPPPFLRGRYRLVRFEDLAREPLAEIRALYAFTGLSLTPQLEAWIHNITHGSGPGARREAFK
TSSRNALNVSQAWRHALPFAKIRRVQELCAGALQLLGYRPVYSEDEQRNLALDLVLPRGLNGFTWASSTASHPRN*

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001942776 CLINVAR
dbSNP (RS) rs2151666243 CLINVAR
MedGen C1636149 CLINVAR
NCBI Gene CHST6 CLINVAR
OMIM 217800 CLINVAR
  605294 CLINVAR
SNOMED CT 418054005 CLINVAR