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Details for COL5A3:c.2194G>A, p.Glu732Lys

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
10097279	9986603

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2194G>A

PROTEIN CHANGE

p.Glu732Lys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0009861	0.0003076	0.001677	0.002579	0.0	0.0002772	0.00131	0.0006517	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.405571	Polymorphism

DBSNP ID

1 combination linked to COL5A3:c.2194G>A, p.Glu732Lys

1 disease linked to COL5A3:c.2194G>A, p.Glu732Lys

Non-Syndromic genetic keratoconus

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