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Details for NDNF:c.901G>A, p.Val301Ile

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
121958225	121037070

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.901G>A

PROTEIN CHANGE

p.Val301Ile

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
6.812e-05	0.0	2.899e-05	0.0	0.0	0.0	1.78e-05	0.0001642	0.0004254

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.951779	Polymorphism

DBSNP ID

1 combination linked to NDNF:c.901G>A, p.Val301Ile

1 disease linked to NDNF:c.901G>A, p.Val301Ile

Hypogonadotropic hypogonadism with absent puberty phenotype

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