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Details for LOXHD1:c.2353G>A, p.Ala785Thr

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
44146304	46566341

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2353G>A

PROTEIN CHANGE

p.Ala785Thr

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
3.149e-05	0.0	8.081e-05	0.0	0.0	0.0	3.266e-05	0.0	4.388e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.944519	Polymorphism

DBSNP ID

1 combination linked to LOXHD1:c.2353G>A, p.Ala785Thr

1 disease linked to LOXHD1:c.2353G>A, p.Ala785Thr

Non-Syndromic genetic keratoconus

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