rs202183857 Rat Genome Database

rs202183857 Rat Genome Database

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Variant: rs202183857 - Homo sapiens

RGD ID:

152121095

RS ID:

rs202183857

ClinVar ID:

CV1662140

Genic Status:

GENIC

Type:

deletion (SO:0000159)

Associated Genes:

ALS2

Reference Nucleotide:

A

Variant Nucleotide:

-

Position

Assembly	Chr	Position
GRCh37	2	202,598,176
GRCh38	2	201,733,453

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View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_654t1:c.2418-14del NM_020919.4:c.2418-14del LRG_654:g.52721del NG_008775.1:g.52721del More...	08/17/2023	intron variant	benign	Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis; Spastic paralysis, infantile onset ascending

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1662140	Human	Hereditary Spastic Paralysis, Infantile Onset Ascending		IAGP		8554872	ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis	ClinVar	PMID:28492532

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002117861	CLINVAR
dbSNP (RS)	rs202183857	CLINVAR
MedGen	C2931441	CLINVAR
NCBI Gene	ALS2	CLINVAR
OMIM	606352	CLINVAR
	607225	CLINVAR