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Details for TTN:c.64442T>C, p.Leu21481Pro

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
179438713	178573986

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.64442T>C

PROTEIN CHANGE

p.Leu21481Pro

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.000564	0.0001939	0.0002612	0.0	0.0	0.0001393	0.00105	0.0009977	3.269e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	Damaging	2.935533	Disease causing

DBSNP ID

1 combination linked to TTN:c.64442T>C, p.Leu21481Pro

1 disease linked to TTN:c.64442T>C, p.Leu21481Pro

Non-Syndromic genetic keratoconus

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