RGD:401867068 Rat Genome Database

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Variant: RGD:401867068 -  Homo sapiens

RGD ID: 401867068
ClinVar ID: CV2748823
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHST6  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 75,512,726
GRCh38 16 75,478,828
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000016.9:g.75512726C>T
NM_021615.4:c.1001G>A
LRG_1252p1:p.Arg334His
NP_067628.1:p.Arg334His
More... 		08/02/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CHST6
Accession:NM_021615
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 334
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWLPRVSSTAVTALLLAQTFLLLFLVSRPGPSSPAGGEARVHVLVLSSWRSGSSFVGQLFNQHPDVFYLMEPAWHVWTTL
SQGSAATLHMAVRDLVRSVFLCDMDVFDAYLPWRRNLSDLFQWAVSRALCSPPACSAFPRGAISSEAVCKPLCARQSFTL
AREACRSYSHVVLKEVRFFNLQVLYPLLSDPALNLRIVHLVRDPRAVLRSREQTAKALARDNGIVLGTNGTWVEADPGLR
VVREVCRSHVRIAEAATLKPPPFLRGRYRLVRFEDLAREPLAEIRALYAFTGLSLTPQLEAWIHNITHGSGPGARREAFK
TSSRNALNVSQAWHHALPFAKIRRVQELCAGALQLLGYRPVYSEDEQRNLALDLVLPRGLNGFTWASSTASHPRN*

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:16804774   PMID:19337156  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003331645 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CHST6 CLINVAR
OMIM 605294 CLINVAR