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Details for COL6A3:c.5681C>T, p.Pro1894Leu

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
238274498	237365855

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.5681C>T

PROTEIN CHANGE

p.Pro1894Leu

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
4.772e-05	0.0	0.0	0.0	0.0	0.0	6.155e-05	0.0003259	9.799e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	2.14556	Polymorphism

DBSNP ID

1 combination linked to COL6A3:c.5681C>T, p.Pro1894Leu

1 disease linked to COL6A3:c.5681C>T, p.Pro1894Leu

Non-Syndromic genetic keratoconus

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