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Details for GLI3:c.674C>T, p.Thr225Ile

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
42088095	42048496

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.674C>T

PROTEIN CHANGE

p.Thr225Ile

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
1.194e-05	0.0	0.0	0.0	0.0001631	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.705442	Polymorphism

DBSNP ID

1 combination linked to GLI3:c.674C>T, p.Thr225Ile

1 disease linked to GLI3:c.674C>T, p.Thr225Ile

46,XY disorder of sex development

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