RGD:155988147 Rat Genome Database

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Variant: RGD:155988147 -  Homo sapiens

RGD ID: 155988147
ClinVar ID: CV2159894
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DOLK  LOC127816175  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 131,709,270
GRCh38 9 128,946,991
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_744t1:c.313C>T
NM_014908.4:c.313C>T
LRG_744:g.5743C>T
NG_117679.1:g.166G>A
More... 		08/10/2023 missense variant uncertain significance Carbohydrate deficient glycoprotein syndrome type 1m; CDG Im; Congenital disorder of glycosylation type 1M; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; DK1 DEFICIENCY; DK1-CDG; DOLICHOL KINASE DEFICIENCY; DOLK-congenital disorder of glycosylation
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DOLK
Accession:NM_014908
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTRECPSPAPGPGAPLSGSVLAEAAVVFAVVLSIHATVWDRYSWCAVALAVQAFYVQYKWDRLLQQGSAVFQFRMSANSG
LLPASMVMPLLGLVMKERCQTAGNSFFERFGIVVAATGMAVALFSSVLALGITRPVPTNTCVILGLAGGVIIYIMKHSLS
VGEVIEVLEVLLIFVYLNMILLYLLPRCFTPGEALLVLGGISFVLNQLIKRSLTLVESQGDPVDFFLLVVVVGMVLMGIF
FSTLFVFMDSGTWASSIFFHLMTCVLSLGVVLPWLHRLIRRNPLLWLLQFLFQTDTRIYLLAYWSLLATLACLVVLYQNA
KRSSSESKKHQAPTIARKYFHLIVVATYIPGIIFDRPLLYVAATVCLAVFIFLEYVRYFRIKPLGHTLRSFLSLFLDERD
SGPLILTHIYLLLGMSLPIWLIPRPCTQKGSLGGARALVPYAGVLAVGVGDTVASIFGSTMGEIRWPGTKKTFEGTMTSI
FAQIISVALILIFDSGVDLNYSYAWILGSISTVSLLEAYTTQIDNLLLPLYLLILLMA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003034199 CLINVAR
MedGen C1835849 CLINVAR
NCBI Gene DOLK CLINVAR
OMIM 610746 CLINVAR
  610768 CLINVAR
SNOMED CT 718712005 CLINVAR