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Details for TBCD:c.3365C>T, p.Pro1122Leu

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
80896008	82938132

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.3365C>T

PROTEIN CHANGE

p.Pro1122Leu

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
6.898e-05	6.609e-05	0.0	0.0003009	0.000615	0.0	8.967e-06	0.0	3.294e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.604245	Disease causing

DBSNP ID

1 combination linked to TBCD:c.3365C>T, p.Pro1122Leu

1 disease linked to TBCD:c.3365C>T, p.Pro1122Leu

Transposition of the great arteries

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