rs587783940 Rat Genome Database

rs587783940 Rat Genome Database

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Variant: rs587783940 - Homo sapiens

RGD ID:

9683013

RS ID:

rs587783940

ClinVar ID:

CV168402

Genic Status:

GENIC

Type:

deletion (SO:0000159)

Associated Genes:

Reference Nucleotide:

TAAG

Variant Nucleotide:

-

Position

Assembly	Chr	Position
GRCh37	5	37,007,435 - 37,007,439
GRCh38	5	37,007,333 - 37,007,337

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Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NG_006987.2:g.135451_135454del NC_000005.10:g.37007333_37007336del NM_133433.3:c.4098_4101del NP_597677.2:p.Leu1366fs More...	02/08/2013	frameshift variant	pathogenic	antenatal\|neonatal/infancy	cornelia de lange syndrome occurs in 1 in 10-100,000 live births.	Brachmann de Lange syndrome; Typus degenerativus amstelodamensis

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV168402	Human	Cornelia de Lange syndrome 1		IAGP		8554872	ClinVar Annotator: match by term: Cornelia de Lange syndrome 1	ClinVar	PMID:18414213

ClinVar GRCh37	ClinVar GRCh38

PMID:18414213

Database	Acc Id	Source(s)
ClinVar	RCV000146599	CLINVAR
dbSNP (RS)	rs587783940	CLINVAR
MedGen	C4551851	CLINVAR
NCBI Gene	NIPBL	CLINVAR
OMIM	122470	CLINVAR
	608667	CLINVAR