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Details for EML6:c.2347G>T, p.Asp783Tyr

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
55106686	54879549

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2347G>T

PROTEIN CHANGE

p.Asp783Tyr

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.431982	Disease causing

DBSNP ID

1 combination linked to EML6:c.2347G>T, p.Asp783Tyr

1 disease linked to EML6:c.2347G>T, p.Asp783Tyr

Non-Syndromic genetic keratoconus

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