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Details for MYRF:c.2227C>T, p.Pro743Ser

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
61547022	61779550

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2227C>T

PROTEIN CHANGE

p.Pro743Ser

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
7.661e-05	0.0	0.0004185	0.0	0.0	0.0	4.457e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.0716	Polymorphism

DBSNP ID

1 combination linked to MYRF:c.2227C>T, p.Pro743Ser

1 disease linked to MYRF:c.2227C>T, p.Pro743Ser

Syndrome with 46,XY disorder of sex development

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