rs3219171 Rat Genome Database

rs3219171 Rat Genome Database

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Variant: rs3219171 - Homo sapiens

RGD ID:

150404719

RS ID:

rs3219171

ClinVar ID:

CV1178867

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ALS2

Reference Nucleotide:

A

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	2	202,569,992
GRCh38	2	201,705,269

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_654t1:c.4627-69T>A NM_020919.4:c.4627-69T>A NC_000002.12:g.201705269A>T NC_000002.11:g.202569992A>T More...	07/14/2021	intron variant	benign	ALS, JUVENILE; Amyotrophic lateral sclerosis type 2; Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis; none provided; PLS juvenile; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Spastic paralysis, infantile onset ascending

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1178867	Human	amyotrophic lateral sclerosis type 2		IAGP		8554872	ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 2	ClinVar	PMID:25741868
CV1178867	Human	Hereditary Spastic Paralysis, Infantile Onset Ascending		IAGP		8554872	ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis	ClinVar	PMID:25741868
CV1178867	Human	Juvenile Amyotrophic Lateral Sclerosis		IAGP		8554872	ClinVar Annotator: match by term: ALS and JUVENILE	ClinVar	PMID:25741868
CV1178867	Human	Primary Lateral Sclerosis Juvenile		IAGP		8554872	ClinVar Annotator: match by term: Juvenile primary lateral sclerosis	ClinVar	PMID:25741868

Gene Symbol:	ALS2
Accession:	XM_006712654
Location:	INTRON

Gene Symbol:	ALS2
Accession:	XM_006712655
Location:	INTRON

Gene Symbol:	ALS2
Accession:	NM_001135745
Location:	INTRON

Gene Symbol:	ALS2
Accession:	XM_017004570
Location:	INTRON

Gene Symbol:	ALS2
Accession:	NM_020919
Location:	INTRON

Gene Symbol:	ALS2
Accession:	XM_047445238
Location:	INTRON

Gene Symbol:	ALS2
Accession:	XM_017004572
Location:	INTRON

Gene Symbol:	ALS2
Accession:	XM_047445224
Location:	INTRON

Gene Symbol:	ALS2
Accession:	XM_047445241
Location:	INTRON

Gene Symbol:	ALS2
Accession:	NM_001410975
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV001549124	CLINVAR
	RCV001549125	CLINVAR
	RCV001549126	CLINVAR
	RCV001713030	CLINVAR
dbSNP (RS)	rs3219171	CLINVAR
MedGen	C1853396	CLINVAR
	C1859807	CLINVAR
	C2931441	CLINVAR
	C3661900	CLINVAR
NCBI Gene	ALS2	CLINVAR
OMIM	205100	CLINVAR
	606352	CLINVAR
	606353	CLINVAR
	607225	CLINVAR