This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for GLI3:c.341G>A, p.Arg114Lys

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
42187851	42148252

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.341G>A

PROTEIN CHANGE

p.Arg114Lys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.001	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002419	0.0007639	0.0004372	0.003931	5.461e-05	0.0007959	0.00444	0.003294	6.632e-05

ESP
AA	EA
0.001589	0.004186

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	4.001365	Polymorphism

DBSNP ID

1 combination linked to GLI3:c.341G>A, p.Arg114Lys

1 disease linked to GLI3:c.341G>A, p.Arg114Lys

Normosmic congenital hypogonadotropic hypogonadism

Found any issues with the data on this page? Report this entry.