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Details for NOTCH2:c.2600-24C>A,

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
120491213	119948590

VARIANT EFFECT

unknown

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2600-24C>A

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.006	0.0	0.0144	0.0188	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.005325	6.152e-05	0.01845	0.002581	0.02622	0.003517	0.0006248	0.004732	0.00049

ESP
AA	EA
0.0	0.0003488

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	-0.072921	Polymorphism

DBSNP ID

2 combinations linked to NOTCH2:c.2600-24C>A,

1 disease linked to NOTCH2:c.2600-24C>A,

46,XY disorder of sex development

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