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Details for LHCGR:c.568C>A, p.Gln190Lys

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
48941162	48714023

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.568C>A

PROTEIN CHANGE

p.Gln190Lys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0024	0.0091	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0003902	0.005292	0.0002607	0.0	0.0	0.0	1.762e-05	0.0001632	0.0

ESP
AA	EA
0.004312	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.605258	Polymorphism

DBSNP ID

1 combination linked to LHCGR:c.568C>A, p.Gln190Lys

1 disease linked to LHCGR:c.568C>A, p.Gln190Lys

Primary ovarian failure

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