rs886060563 Rat Genome Database

rs886060563 Rat Genome Database

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Variant: rs886060563 - Homo sapiens

RGD ID:

11663326

RS ID:

rs886060563

ClinVar ID:

CV297448

Genic Status:

GENIC

Type:

deletion (SO:0000159)

Associated Genes:

Reference Nucleotide:

TC

Variant Nucleotide:

-

Position

Assembly	Chr	Position
GRCh37	5	37,065,259 - 37,065,261
GRCh38	5	37,065,157 - 37,065,159

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_015384.5:c.1134_1135del NM_133433.4:c.265_266del NG_006987.2:g.193275_193276del NC_000005.10:g.37065157_37065158del More...	06/14/2016	3 prime utr variant	uncertain significance	CDL; Cornelia de Lange syndrome

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV297448	Human	Cornelia de Lange syndrome		IAGP		8554872	ClinVar Annotator: match by term: Cornelia de Lange Syndrome	ClinVar

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV000394929	CLINVAR
dbSNP (RS)	rs886060563	CLINVAR
MedGen	C0270972	CLINVAR
NCBI Gene	NIPBL	CLINVAR
OMIM	122470	CLINVAR
	608667	CLINVAR
SNOMED CT	40354009	CLINVAR