rs1156844272 Rat Genome Database

rs1156844272 Rat Genome Database

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Variant: rs1156844272 - Homo sapiens

RGD ID:

151820507

RS ID:

rs1156844272

ClinVar ID:

CV1425383

Genic Status:

GENIC

Type:

deletion (SO:0000159)

Associated Genes:

DOLK LOC127816175

Reference Nucleotide:

G

Variant Nucleotide:

-

Position

Assembly	Chr	Position
GRCh37	9	131,709,210
GRCh38	9	128,946,931

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_014908.4:c.374del LRG_744:g.5804del NG_033111.1:g.4238del NG_017009.1:g.5804del More...	08/08/2022	frameshift variant	pathogenic\|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)
CV1425383	Human	congenital disorder of glycosylation Im		IAGP		8554872	ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M	ClinVar	PMID:28492532 and PMID:31983221

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532	PMID:31983221

Database	Acc Id	Source(s)
ClinVar	RCV001954710	CLINVAR
	RCV002361247	CLINVAR
dbSNP (RS)	rs1156844272	CLINVAR
MedGen	C1835849	CLINVAR
	CN230736	CLINVAR
NCBI Gene	DOLK	CLINVAR
OMIM	610746	CLINVAR
	610768	CLINVAR
SNOMED CT	718712005	CLINVAR