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Details for LHCGR:c.1660C>T, p.Arg554Ter

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
48915276	48688137

VARIANT EFFECT

nonsense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1660C>T

PROTEIN CHANGE

p.Arg554Ter

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
3.981e-06	0.0	0.0	0.0	0.0	0.0	8.806e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	7.305944	Disease causing

DBSNP ID

1 combination linked to LHCGR:c.1660C>T, p.Arg554Ter

1 disease linked to LHCGR:c.1660C>T, p.Arg554Ter

46,XY disorder of sex development

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