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Details for SLC4A4:c.1256C>T, p.Thr419Met

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
72316952	71451235

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1256C>T

PROTEIN CHANGE

p.Thr419Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0	0.001	0.001	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
2.788e-05	0.0	2.894e-05	0.0	5.444e-05	0.0	1.763e-05	0.0	9.799e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.207242	Polymorphism

DBSNP ID

1 combination linked to SLC4A4:c.1256C>T, p.Thr419Met

1 disease linked to SLC4A4:c.1256C>T, p.Thr419Met

Non-Syndromic genetic keratoconus

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