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Details for NDNF:c.40C>A, p.Pro14Thr

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
121966953	121045798

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.40C>A

PROTEIN CHANGE

p.Pro14Thr

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
2.405e-05	0.0	0.0	0.0	0.0	0.0	5.3e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.371316	Polymorphism

DBSNP ID

1 combination linked to NDNF:c.40C>A, p.Pro14Thr

1 disease linked to NDNF:c.40C>A, p.Pro14Thr

Hypogonadotropic hypogonadism with partial puberty phenotype

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