rs139787271 Rat Genome Database

rs139787271 Rat Genome Database

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Variant: rs139787271 - Homo sapiens

RGD ID:

8642561

RS ID:

rs139787271

ClinVar ID:

CV101545

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

DOLK LOC127816174

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	9	131,708,883
GRCh38	9	128,946,604

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_017009.1:g.6130A>G NC_000009.12:g.128946604T>C NC_000009.11:g.131708883T>C LRG_744t1:c.700A>G More...	02/01/2024	2kb upstream variant\|missense\|missense variant	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	AllHighlyPenetrant; 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; DOLK-related condition; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV101545	Human	congenital disorder of glycosylation Im		IAGP		8554872	ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M	ClinVar	PMID:23806237 more ...

Gene Symbol:	DOLK
Accession:	NM_014908
Location:	EXON
Amino Acid Prediction:	M to V (nonsynonymous)
Amino Acid Position:	234

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTRECPSPAPGPGAPLSGSVLAEAAVVFAVVLSIHATVWDRYSWCAVALAVQAFYVQYKWDRLLQQGSAVFQFRMSANSG LLPASMVMPLLGLVMKERCQTAGNPFFERFGIVVAATGMAVALFSSVLALGITRPVPTNTCVILGLAGGVIIYIMKHSLS VGEVIEVLEVLLIFVYLNMILLYLLPRCFTPGEALLVLGGISFVLNQLIKRSLTLVESQGDPVDFFLLVVVVGVVLMGIF FSTLFVFMDSGTWASSIFFHLMTCVLSLGVVLPWLHRLIRRNPLLWLLQFLFQTDTRIYLLAYWSLLATLACLVVLYQNA KRSSSESKKHQAPTIARKYFHLIVVATYIPGIIFDRPLLYVAATVCLAVFIFLEYVRYFRIKPLGHTLRSFLSLFLDERD SGPLILTHIYLLLGMSLPIWLIPRPCTQKGSLGGARALVPYAGVLAVGVGDTVASIFGSTMGEIRWPGTKKTFEGTMTSI FAQIISVALILIFDSGVDLNYSYAWILGSISTVSLLEAYTTQIDNLLLPLYLLILLMA*

ClinVar GRCh37	ClinVar GRCh38

PMID:23806237	PMID:25741868	PMID:28492532	PMID:30775854

Database	Acc Id	Source(s)
ClinVar	RCV000723494	CLINVAR
	RCV001084826	CLINVAR
	RCV002371930	CLINVAR
	RCV003915087	CLINVAR
	RCV004782051	CLINVAR
dbSNP (RS)	rs139787271	CLINVAR
MedGen	C1835849	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
	CN230736	CLINVAR
NCBI Gene	DOLK	CLINVAR
OMIM	610746	CLINVAR
	610768	CLINVAR
SNOMED CT	718712005	CLINVAR