RGD:14693114 Rat Genome Database

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Variant: RGD:14693114 -  Homo sapiens

RGD ID: 14693114
RS ID: rs375059043
ClinVar ID: CV620561
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHST6  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 75,513,335
GRCh38 16 75,479,437
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.392C>T
NG_016442.2:g.21005C>T
NC_000016.10:g.75479437G>A
NC_000016.9:g.75513335G>A
More... 		01/10/2019 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: S to L (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWLPRVSSTAVTALLLAQTFLLLFLVSRPGPSSPAGGEARVHVLVLSSWRSGSSFVGQLFNQHPDVFYLMEPAWHVWTTL
SQGSAATLHMAVRDLVRSVFLCDMDVFDAYLPWRRNLSDLFQWAVSRALCLPPACSAFPRGAISSEAVCKPLCARQSFTL
AREACRSYSHVVLKEVRFFNLQVLYPLLSDPALNLRIVHLVRDPRAVLRSREQTAKALARDNGIVLGTNGTWVEADPGLR
VVREVCRSHVRIAEAATLKPPPFLRGRYRLVRFEDLAREPLAEIRALYAFTGLSLTPQLEAWIHNITHGSGPGARREAFK
TSSRNALNVSQAWRHALPFAKIRRVQELCAGALQLLGYRPVYSEDEQRNLALDLVLPRGLNGFTWASSTASHPRN*

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

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

Variant Samples
Additional References at PubMed
PMID:16568029  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000778477 CLINVAR
dbSNP (RS) rs375059043 CLINVAR
MedGen C1636149 CLINVAR
NCBI Gene CHST6 CLINVAR
OMIM 217800 CLINVAR
  605294 CLINVAR
SNOMED CT 418054005 CLINVAR