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Details for LHB:c.262C>T, p.Arg88Trp

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
49519489	49016232

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.262C>T

PROTEIN CHANGE

p.Arg88Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.001	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0003986	6.182e-05	2.894e-05	0.0	0.004954	0.0	4.409e-05	0.0	6.536e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.081174	Disease causing

DBSNP ID

3 combinations linked to LHB:c.262C>T, p.Arg88Trp

OLI858; OLI891; OLI911

2 diseases linked to LHB:c.262C>T, p.Arg88Trp

Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome

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