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Details for SLC4A4:c.149G>C, p.Gly50Ala

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
72121012	71255295

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.149G>C

PROTEIN CHANGE

p.Gly50Ala

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0014	0.0008	0.0014	0.0	0.005	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001566	0.0007105	0.0005802	0.0006961	0.0	0.0007892	0.002895	0.001157	3.268e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.099484	Polymorphism

DBSNP ID

1 combination linked to SLC4A4:c.149G>C, p.Gly50Ala

1 disease linked to SLC4A4:c.149G>C, p.Gly50Ala

Non-Syndromic genetic keratoconus

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