rs576979416 Rat Genome Database

rs576979416 Rat Genome Database

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Variant: rs576979416 - Homo sapiens

RGD ID:

11605165

RS ID:

rs576979416

ClinVar ID:

CV316752

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	9	131,709,968
GRCh38	9	128,947,689

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Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_744t1:c.-386C>A LRG_744:g.5045C>A NG_017009.1:g.5045C>A NC_000009.12:g.128947689G>T More...	01/13/2018	5 prime utr 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)
CV316752	Human	congenital disorder of glycosylation Im		IAGP		8554872	ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M	ClinVar

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV000316808	CLINVAR
dbSNP (RS)	rs576979416	CLINVAR
MedGen	C1835849	CLINVAR
NCBI Gene	DOLK	CLINVAR
OMIM	610746	CLINVAR
	610768	CLINVAR
SNOMED CT	718712005	CLINVAR