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Details for EYA1:c.743C>T, p.Thr248Met

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
72211365	71299130

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.743C>T

PROTEIN CHANGE

p.Thr248Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0008	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
4.772e-05	0.0	0.0	0.0	0.0	0.0	8.79e-05	0.0003258	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	2.990989	Polymorphism

DBSNP ID

1 combination linked to EYA1:c.743C>T, p.Thr248Met

1 disease linked to EYA1:c.743C>T, p.Thr248Met

Congenital hypothyroidism

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