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Details for TBX20:c.991A>G, p.Thr331Ala

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
35244094	35204482

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.991A>G

PROTEIN CHANGE

p.Thr331Ala

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
8.023e-06	0.0	2.899e-05	0.0	5.565e-05	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.075726	Disease causing

DBSNP ID

1 combination linked to TBX20:c.991A>G, p.Thr331Ala

1 disease linked to TBX20:c.991A>G, p.Thr331Ala

Congenital heart disease

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