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Details for MYRF:c.848C>T, p.Thr283Ile

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
61539079	61771607

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.848C>T

PROTEIN CHANGE

p.Thr283Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002228	0.0001847	2.893e-05	0.0	0.0	9.246e-05	0.0004047	0.000163	9.799e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.014826	Polymorphism

DBSNP ID

1 combination linked to MYRF:c.848C>T, p.Thr283Ile

1 disease linked to MYRF:c.848C>T, p.Thr283Ile

46,XY disorder of sex development

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