rs138453255 Rat Genome Database

rs138453255 Rat Genome Database

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Variant: rs138453255 - Homo sapiens

RGD ID:

11088753

RS ID:

rs138453255

ClinVar ID:

CV229669

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

DOLK

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	9	131,708,504
GRCh38	9	128,946,225

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_014908.4:c.1079A>G NP_055723.1:p.Tyr360Cys LRG_744t1:c.1079A>G LRG_744:g.6509A>G More...	12/31/2019	missense variant	likely benign\|conflicting interpretations of pathogenicity	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)
CV229669	Human	congenital disorder of glycosylation Im		IAGP		8554872	ClinVar Annotator: match by term: DOLICHOL KINASE DEFICIENCY	ClinVar	PMID:24033266 more ...

Gene Symbol:	DOLK
Accession:	NM_014908
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	360

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

ClinVar GRCh37	ClinVar GRCh38

PMID:24033266	PMID:25188385	PMID:25819062	PMID:27212206	PMID:28492532	PMID:28820871

Database	Acc Id	Source(s)
ClinVar	RCV000213968	CLINVAR
	RCV000546269	CLINVAR
	RCV001697285	CLINVAR
	RCV002415893	CLINVAR
	RCV003967581	CLINVAR
dbSNP (RS)	rs138453255	CLINVAR
MedGen	C1835849	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
	CN230736	CLINVAR
NCBI Gene	DOLK	CLINVAR
OMIM	610746	CLINVAR
	610768	CLINVAR
SNOMED CT	718712005	CLINVAR