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Details for NIPBL:c.6954+3A>G,

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
37049406	37049304

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.6954+3A>G

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
2.786e-05	0.0	0.0001735	0.0	0.0	0.0	8.806e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	1.444553	Polymorphism

DBSNP ID

1 combination linked to NIPBL:c.6954+3A>G,

1 disease linked to NIPBL:c.6954+3A>G,

46,XY disorder of sex development

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