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Details for NKX2-5:c.632C>T, p.Pro211Leu

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
172659915	173232912

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.632C>T

PROTEIN CHANGE

p.Pro211Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002482	0.0002428	6.26e-05	0.0	0.0	0.000101	0.0004757	0.0001821	3.393e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.73197	Polymorphism

DBSNP ID

1 combination linked to NKX2-5:c.632C>T, p.Pro211Leu

1 disease linked to NKX2-5:c.632C>T, p.Pro211Leu

Congenital hypothyroidism

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