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Details for DPT:c.446A>G, p.Tyr149Cys

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
168670348	168701110

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.446A>G

PROTEIN CHANGE

p.Tyr149Cys

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
2.786e-05	0.0	0.0	0.0	0.0	0.0	6.157e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.0537	Disease causing

DBSNP ID

2 combinations linked to DPT:c.446A>G, p.Tyr149Cys

2 diseases linked to DPT:c.446A>G, p.Tyr149Cys

Congenital glaucoma; Rare congenital non-syndromic heart malformation

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