rs1574655402 Rat Genome Database

rs1574655402 Rat Genome Database

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Variant: rs1574655402 - Homo sapiens

RGD ID:

21405072

RS ID:

rs1574655402

ClinVar ID:

CV800995

Genic Status:

GENIC

Type:

deletion (SO:0000159)

Associated Genes:

ALS2

Reference Nucleotide:

C

Variant Nucleotide:

-

Position

Assembly	Chr	Position
GRCh37	2	202,569,924
GRCh38	2	201,705,201

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Clinical Significance	Trait Synonyms
NG_008775.1:g.80973del NC_000002.12:g.201705201del NC_000002.11:g.202569924del LRG_654:g.80973del		likely pathogenic	Abnormal cerebral white matter morphology; Abnormality of the cerebral white matter; Hypertyrosinemia; Hypokinesia; Limb dystonia; Spasticity

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV800995	Human	Developmental Disabilities		IAGP		8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:32581362

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV800995	Human	Global developmental delay		IAGP		8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:32581362

ClinVar GRCh37	ClinVar GRCh38

PMID:32581362

Database	Acc Id	Source(s)
ClinVar	RCV001003959	CLINVAR
dbSNP (RS)	rs1574655402	CLINVAR
MedGen	C0557874	CLINVAR
NCBI Gene	ALS2	CLINVAR
OMIM	606352	CLINVAR