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Details for LOXHD1:c.1843C>T, p.Arg615Trp

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
44157797	46577834

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1843C>T

PROTEIN CHANGE

p.Arg615Trp

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
9.482e-05	0.0003442	0.0	0.0	0.0001767	0.0	0.0001151	0.0	0.0001316

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.517759	Polymorphism

DBSNP ID

1 combination linked to LOXHD1:c.1843C>T, p.Arg615Trp

1 disease linked to LOXHD1:c.1843C>T, p.Arg615Trp

Non-Syndromic genetic keratoconus

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