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Details for TG:c.2269G>A, p.Asp757Asn

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
133900321	132888076

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2269G>A

PROTEIN CHANGE

p.Asp757Asn

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
7.562e-05	0.0	0.0003181	0.0	0.0	0.0	7.042e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.23975	Polymorphism

DBSNP ID

1 combination linked to TG:c.2269G>A, p.Asp757Asn

1 disease linked to TG:c.2269G>A, p.Asp757Asn

Congenital hypothyroidism

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