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Details for EML6:c.3181G>A, p.Asp1061Asn

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
55130237	54903100

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.3181G>A

PROTEIN CHANGE

p.Asp1061Asn

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
0.0001017	0.0	0.0002024	0.0	0.0	0.0	0.00018	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.819988	Disease causing

DBSNP ID

1 combination linked to EML6:c.3181G>A, p.Asp1061Asn

1 disease linked to EML6:c.3181G>A, p.Asp1061Asn

Non-Syndromic genetic keratoconus

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