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Details for TBX5:c.331G>T, p.Asp111Tyr

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
114837349	114399544

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.331G>T

PROTEIN CHANGE

p.Asp111Tyr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0022	0.0	0.0072	0.0	0.006	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00334	0.0009843	0.006447	9.921e-05	0.0	0.0007853	0.004773	0.005213	0.0002613

ESP
AA	EA
0.0004539	0.004884

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.15996	Disease causing

DBSNP ID

1 combination linked to TBX5:c.331G>T, p.Asp111Tyr

1 disease linked to TBX5:c.331G>T, p.Asp111Tyr

Odontochondrodysplasia

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