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Details for NKX2-1:c.1054G>A, p.Gly352Ser

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
36986635	36517430

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1054G>A

PROTEIN CHANGE

p.Gly352Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0	0.003	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002168	0.0	0.0	0.0	0.003418	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.237074	Disease causing

DBSNP ID

3 combinations linked to NKX2-1:c.1054G>A, p.Gly352Ser

OLI1499; OLI1500; OLI1501

1 disease linked to NKX2-1:c.1054G>A, p.Gly352Ser

Congenital hypothyroidism

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