rs377658203 Rat Genome Database

rs377658203 Rat Genome Database

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Variant: rs377658203 - Homo sapiens

RGD ID:

13607821

RS ID:

rs377658203

ClinVar ID:

CV524583

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

DOLK LOC127816174

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	9	131,709,023
GRCh38	9	128,946,744

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_033111.1:g.4052C>T NC_000009.12:g.128946744C>T NC_000009.11:g.131709023C>T LRG_744p1:p.Arg187His More...	02/16/2024	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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV524583	Human	congenital disorder of glycosylation Im		IAGP		8554872	ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M	ClinVar	PMID:28492532

Gene Symbol:	DOLK
Accession:	NM_014908
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	187

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

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000639760	CLINVAR
	RCV004025590	CLINVAR
dbSNP (RS)	rs377658203	CLINVAR
MedGen	C1835849	CLINVAR
	CN230736	CLINVAR
NCBI Gene	DOLK	CLINVAR
OMIM	610746	CLINVAR
	610768	CLINVAR
SNOMED CT	718712005	CLINVAR