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Details for ZNF469:c.9347C>T, p.Thr3116Ile

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
88503309	88436901

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.9347C>T

PROTEIN CHANGE

p.Thr3116Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0008	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
3.613e-05	0.0004905	4.944e-05	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.924065	Disease causing

DBSNP ID

1 combination linked to ZNF469:c.9347C>T, p.Thr3116Ile

1 disease linked to ZNF469:c.9347C>T, p.Thr3116Ile

Syndromic genetic keratoconus

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