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Details for GLI2:c.4661C>T, p.Pro1554Leu

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
121748151	120990575

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.4661C>T

PROTEIN CHANGE

p.Pro1554Leu

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
4.377e-05	0.0	0.0	9.934e-05	0.0	0.0	7.038e-05	0.0003263	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.008944	Disease causing

DBSNP ID

1 combination linked to GLI2:c.4661C>T, p.Pro1554Leu

1 disease linked to GLI2:c.4661C>T, p.Pro1554Leu

46,XY disorder of sex development

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