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Details for LIF:c.481G>A, p.Val161Met

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
30639768	30243779

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.481G>A

PROTEIN CHANGE

p.Val161Met

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
1.193e-05	0.0	0.0	0.0	0.0	0.0	2.637e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.034127	Polymorphism

DBSNP ID

1 combination linked to LIF:c.481G>A, p.Val161Met

1 disease linked to LIF:c.481G>A, p.Val161Met

Normosmic congenital hypogonadotropic hypogonadism

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