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Details for IGSF10:c.7853C>T, p.Thr2618Met

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
151154496	151436708

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.7853C>T

PROTEIN CHANGE

p.Thr2618Met

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
7.742e-05	0.0	8.968e-05	0.0	0.0	0.0	0.0001167	0.0001676	6.815e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.818526	None

DBSNP ID

1 combination linked to IGSF10:c.7853C>T, p.Thr2618Met

1 disease linked to IGSF10:c.7853C>T, p.Thr2618Met

Hypogonadotropic hypogonadism with absent puberty phenotype

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