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Details for LOXHD1:c.740C>A, p.Ala247Glu

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
44190758	46610795

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.740C>A

PROTEIN CHANGE

p.Ala247Glu

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
3.836e-05	0.0	0.0002434	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.085274	None

DBSNP ID

1 combination linked to LOXHD1:c.740C>A, p.Ala247Glu

1 disease linked to LOXHD1:c.740C>A, p.Ala247Glu

Non-Syndromic genetic keratoconus

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