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Details for NOBOX:c.1112A>C, p.Lys371Thr

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
144096892	144399799

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.1112A>C

PROTEIN CHANGE

p.Lys371Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.001	0.0038	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001731	0.001947	0.0003487	0.0	0.0	0.0	8.875e-06	0.0	0.0

ESP
AA	EA
0.001272	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.458983	Disease causing

DBSNP ID

1 combination linked to NOBOX:c.1112A>C, p.Lys371Thr

1 disease linked to NOBOX:c.1112A>C, p.Lys371Thr

Primary ovarian failure

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