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Details for ATG7:c.1277C>T, p.Pro426Leu

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
11389502	11348028

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1277C>T

PROTEIN CHANGE

p.Pro426Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0008	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001204	0.0002464	0.0008128	0.0	0.0	9.256e-05	0.001739	0.000657	0.002195

ESP
AA	EA
0.000227	0.0009302

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.309827	Polymorphism

DBSNP ID

1 combination linked to ATG7:c.1277C>T, p.Pro426Leu

1 disease linked to ATG7:c.1277C>T, p.Pro426Leu

Rare pervasive developmental disorder

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