rs2126187981 Rat Genome Database

rs2126187981 Rat Genome Database

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Variant: rs2126187981 - Homo sapiens

RGD ID:

152982031

RS ID:

rs2126187981

ClinVar ID:

CV1678983

Genic Status:

GENIC

Type:

deletion (SO:0000159)

Associated Genes:

CYP2U1 CYP2U1-AS1 LOC107986298 LOC127401313

Reference Nucleotide:

C

Variant Nucleotide:

-

Position

Assembly	Chr	Position
GRCh37	4	108,852,839
GRCh38	4	107,931,683

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_007961.1:g.5124del NC_000004.12:g.107931684del NC_000004.11:g.108852840del NP_898898.1:p.Pro14fs NM_183075.3:c.41del More...	05/17/2022	frameshift variant	pathogenic	Spastic paraplegia 56, autosomal recessive; SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, WITH OR WITHOUT PSEUDOXANTHOMA ELASTICUM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1678983	Human	hereditary spastic paraplegia 56		IAGP		8554872	ClinVar Annotator: match by term: Hereditary spastic paraplegia 56	ClinVar	PMID:33107650

ClinVar GRCh37	ClinVar GRCh38

PMID:33107650

Database	Acc Id	Source(s)
ClinVar	RCV002248351	CLINVAR
dbSNP (RS)	rs2126187981	CLINVAR
MedGen	C3539507	CLINVAR
NCBI Gene	CYP2U1	CLINVAR
	CYP2U1-AS1	CLINVAR
OMIM	610670	CLINVAR
	615030	CLINVAR
OMIM Allele	610670.0007	CLINVAR