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Details for TG:c.199G>A, p.Gly67Ser

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
133881996	132869751

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.199G>A

PROTEIN CHANGE

p.Gly67Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0052	0.0106	0.0	0.0	0.0119	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.007602	0.00942	0.001388	0.01072	5.437e-05	0.01588	0.01063	0.006847	0.0002613

ESP
AA	EA
0.01158	0.009535

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.318392	Polymorphism

DBSNP ID

1 combination linked to TG:c.199G>A, p.Gly67Ser

1 disease linked to TG:c.199G>A, p.Gly67Ser

Congenital hypothyroidism

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