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Details for MYO7A:c.3G>A, p.Met1

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
76841683	77130637

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.3G>A

PROTEIN CHANGE

p.Met1

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
2.022e-05	0.0	0.0001163	0.0	0.0	0.0	8.927e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.181648	Disease causing

DBSNP ID

1 combination linked to MYO7A:c.3G>A, p.Met1

1 disease linked to MYO7A:c.3G>A, p.Met1

Atypical hemolytic uremic syndrome

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