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Details for NOTCH2:c.6363G>C, p.Lys2121Asn

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
120458982	119916359

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.6363G>C

PROTEIN CHANGE

p.Lys2121Asn

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
0.0004295	0.0	0.0008095	0.0006944	0.0	9.24e-05	0.0005978	0.0004886	0.0

ESP
AA	EA
0.0	0.000814

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.676332	Disease causing

DBSNP ID

1 combination linked to NOTCH2:c.6363G>C, p.Lys2121Asn

1 disease linked to NOTCH2:c.6363G>C, p.Lys2121Asn

Disorder of sex development

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