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Details for PITX2:c.114G>T, p.Thr38=

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
111553569	110632413

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.114G>T

PROTEIN CHANGE

p.Thr38=

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
3.198e-05	0.0	0.0	0.0	0.0	0.0	7.106e-05	0.0	0.0

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	0.637525	Polymorphism

DBSNP ID

1 combination linked to PITX2:c.114G>T, p.Thr38=

1 disease linked to PITX2:c.114G>T, p.Thr38=

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