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Details for FREM2:c.4916G>A, p.Arg1639Lys

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
39266397	38692260

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.4916G>A

PROTEIN CHANGE

p.Arg1639Lys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0058	0.0	0.0	0.0288	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001508	0.0003076	0.0001157	0.0	0.01886	0.0	2.639e-05	0.001306	0.0003921

ESP
AA	EA
0.000227	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.920805	Polymorphism

DBSNP ID

1 combination linked to FREM2:c.4916G>A, p.Arg1639Lys

1 disease linked to FREM2:c.4916G>A, p.Arg1639Lys

46,XY disorder of sex development

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