rs1293227197 Rat Genome Database

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Variant: rs1293227197 -  Homo sapiens

RGD ID: 151851263
RS ID: rs1293227197
ClinVar ID: CV1362022
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DOLK  LOC127816175  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 131,709,440
GRCh38 9 128,947,161
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.143C>T
LRG_744:g.5573C>T
NG_033111.1:g.4469G>A
NC_000009.12:g.128947161G>A
More... 		10/04/2021 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: A to V (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTRECPSPAPGPGAPLSGSVLAEAAVVFAVVLSIHATVWDRYSWCAVVLAVQAFYVQYKWDRLLQQGSAVFQFRMSANSG
LLPASMVMPLLGLVMKERCQTAGNPFFERFGIVVAATGMAVALFSSVLALGITRPVPTNTCVILGLAGGVIIYIMKHSLS
VGEVIEVLEVLLIFVYLNMILLYLLPRCFTPGEALLVLGGISFVLNQLIKRSLTLVESQGDPVDFFLLVVVVGMVLMGIF
FSTLFVFMDSGTWASSIFFHLMTCVLSLGVVLPWLHRLIRRNPLLWLLQFLFQTDTRIYLLAYWSLLATLACLVVLYQNA
KRSSSESKKHQAPTIARKYFHLIVVATYIPGIIFDRPLLYVAATVCLAVFIFLEYVRYFRIKPLGHTLRSFLSLFLDERD
SGPLILTHIYLLLGMSLPIWLIPRPCTQKGSLGGARALVPYAGVLAVGVGDTVASIFGSTMGEIRWPGTKKTFEGTMTSI
FAQIISVALILIFDSGVDLNYSYAWILGSISTVSLLEAYTTQIDNLLLPLYLLILLMA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001978971 CLINVAR
  RCV003170053 CLINVAR
dbSNP (RS) rs1293227197 CLINVAR
MedGen C1835849 CLINVAR
  CN230736 CLINVAR
NCBI Gene DOLK CLINVAR
OMIM 610746 CLINVAR
  610768 CLINVAR
SNOMED CT 718712005 CLINVAR