rs147342916 Rat Genome Database

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Variant: rs147342916 -  Homo sapiens

RGD ID: 126762369
RS ID: rs147342916
ClinVar ID: CV993189
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DOLK  LOC127816174  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 131,708,707
GRCh38 9 128,946,428
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014908.4:c.876C>G
LRG_744:g.6306C>G
NG_033111.1:g.3736G>C
NG_017009.1:g.6306C>G
More... 		06/20/2022 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; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DOLK
Accession:NM_014908
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 292
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTRECPSPAPGPGAPLSGSVLAEAAVVFAVVLSIHATVWDRYSWCAVALAVQAFYVQYKWDRLLQQGSAVFQFRMSANSG
LLPASMVMPLLGLVMKERCQTAGNPFFERFGIVVAATGMAVALFSSVLALGITRPVPTNTCVILGLAGGVIIYIMKHSLS
VGEVIEVLEVLLIFVYLNMILLYLLPRCFTPGEALLVLGGISFVLNQLIKRSLTLVESQGDPVDFFLLVVVVGMVLMGIF
FSTLFVFMDSGTWASSIFFHLMTCVLSLGVVLPWLHRLIRRNPLLWLLQFLLQTDTRIYLLAYWSLLATLACLVVLYQNA
KRSSSESKKHQAPTIARKYFHLIVVATYIPGIIFDRPLLYVAATVCLAVFIFLEYVRYFRIKPLGHTLRSFLSLFLDERD
SGPLILTHIYLLLGMSLPIWLIPRPCTQKGSLGGARALVPYAGVLAVGVGDTVASIFGSTMGEIRWPGTKKTFEGTMTSI
FAQIISVALILIFDSGVDLNYSYAWILGSISTVSLLEAYTTQIDNLLLPLYLLILLMA*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001309863 CLINVAR
  RCV002375391 CLINVAR
  RCV004727121 CLINVAR
dbSNP (RS) rs147342916 CLINVAR
MedGen C1835849 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene DOLK CLINVAR
OMIM 610746 CLINVAR
  610768 CLINVAR
SNOMED CT 718712005 CLINVAR