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Details for WNT10A:c.682T>A, p.Phe228Ile

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
219755011	218890289

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.682T>A

PROTEIN CHANGE

p.Phe228Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.006	0.0015	0.0115	0.0	0.0199	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01392	0.003721	0.01062	0.03493	0.0	0.004702	0.02125	0.01627	0.001668

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.929118	Disease causing

DBSNP ID

2 combinations linked to WNT10A:c.682T>A, p.Phe228Ile

OLI1734; OLI1735

1 disease linked to WNT10A:c.682T>A, p.Phe228Ile

Amelogenesis imperfecta

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