RGD:405189218 Rat Genome Database

RGD:405189218 Rat Genome Database

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Variant: RGD:405189218 - Homo sapiens

RGD ID:

405189218

ClinVar ID:

CV3026306

Genic Status:

GENIC

Type:

deletion (SO:0000159)

Associated Genes:

PIGN

Reference Nucleotide:

A

Variant Nucleotide:

-

Position

Assembly	Chr	Position
GRCh37	18	59,814,352
GRCh38	18	62,147,119

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_012327.6:c.675-17del NM_176787.5:c.675-17del NG_033144.2:g.44938del NG_033144.1:g.44939del More...	05/15/2023	intron variant	likely benign	Congenital disorder of glycosylation due to PIGN deficiency; GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3; PIGN-CDG

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV3026306	Human	multiple congenital anomalies-hypotonia-seizures syndrome 1		IAGP		8554872	ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	ClinVar	PMID:28492532

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV003640608	CLINVAR
MedGen	C3279775	CLINVAR
NCBI Gene	PIGN	CLINVAR
OMIM	606097	CLINVAR
	614080	CLINVAR