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Details for AMOT:c.1055C>T, p.Pro352Leu

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
112058923	112815695

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1055C>T

PROTEIN CHANGE

p.Pro352Leu

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
2.552e-05	0.0	5.087e-05	0.0	0.0	0.0	4.33e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.001406	Polymorphism

DBSNP ID

1 combination linked to AMOT:c.1055C>T, p.Pro352Leu

1 disease linked to AMOT:c.1055C>T, p.Pro352Leu

Isolated spina bifida

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