RGD:401866897 Rat Genome Database

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Variant: RGD:401866897 -  Homo sapiens

RGD ID: 401866897
ClinVar ID: CV2748770
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHST6  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 75,513,309
GRCh38 16 75,479,411
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1252t1:c.418C>T
NM_021615.5:c.418C>T
LRG_1252:g.21031C>T
NG_016442.2:g.21031C>T
More... 		08/17/2023 nonsense pathogenic 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: R to * (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWLPRVSSTAVTALLLAQTFLLLFLVSRPGPSSPAGGEARVHVLVLSSWRSGSSFVGQLFNQHPDVFYLMEPAWHVWTTL
SQGSAATLHMAVRDLVRSVFLCDMDVFDAYLPWRRNLSDLFQWAVSRALCSPPACSAFP*GAISSEAVCKPLCARQSFTL
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:15652851   PMID:29221207   PMID:34826417  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003331592 CLINVAR
MedGen C1636149 CLINVAR
NCBI Gene CHST6 CLINVAR
OMIM 217800 CLINVAR
  605294 CLINVAR
SNOMED CT 418054005 CLINVAR