rs1287763056 Rat Genome Database

rs1287763056 Rat Genome Database

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Variant: rs1287763056 - Homo sapiens

RGD ID:

151838583

RS ID:

rs1287763056

ClinVar ID:

CV1344818

Genic Status:

GENIC

Type:

insertion (SO:0000667)

Associated Genes:

DOLK

Reference Nucleotide:

-

Variant Nucleotide:

GG

Position

Assembly	Chr	Position
GRCh37	9	131,708,250
GRCh38	9	128,945,971

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_017009.1:g.6762_6763dup NC_000009.12:g.128945971_128945972dup NC_000009.11:g.131708249_131708250insGG NC_000009.11:g.131708250_131708251dup More...	10/26/2021	frameshift 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)
CV1344818	Human	congenital disorder of glycosylation Im		IAGP		8554872	ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M	ClinVar	PMID:25741868 and PMID:28492532

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002015061	CLINVAR
	RCV004045453	CLINVAR
dbSNP (RS)	rs1287763056	CLINVAR
MedGen	C1835849	CLINVAR
	CN230736	CLINVAR
NCBI Gene	DOLK	CLINVAR
OMIM	610746	CLINVAR
	610768	CLINVAR
SNOMED CT	718712005	CLINVAR