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Details for LHX4:c.385G>A, p.Glu129Lys

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
180235663	180266528

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.385G>A

PROTEIN CHANGE

p.Glu129Lys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.002	0.0076	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0004057	0.004984	0.0002313	0.0	0.0	0.0	8.796e-06	0.0003257	0.0003266

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.007004	Polymorphism

DBSNP ID

1 combination linked to LHX4:c.385G>A, p.Glu129Lys

1 disease linked to LHX4:c.385G>A, p.Glu129Lys

46,XY disorder of sex development

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