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Details for LOXL4:c.1684_1686del, p.Glu562del

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
100013458	98253701

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

TCTC

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1684_1686del

PROTEIN CHANGE

p.Glu562del

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
4.772e-05	0.0002461	0.0001156	0.0	0.0	0.0	3.517e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	2.314996	Disease causing

DBSNP ID

1 combination linked to LOXL4:c.1684_1686del, p.Glu562del

1 disease linked to LOXL4:c.1684_1686del, p.Glu562del

Congenital nephrotic syndrome

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