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Details for TNXB:c.4010G>A, p.Arg1337His

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
32049177	32081400

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.4010G>A

PROTEIN CHANGE

p.Arg1337His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0014	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0003811	0.0002336	0.0009141	0.0001157	0.0	0.0	0.0004932	0.0006687	4.336e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.456093	Polymorphism

DBSNP ID

1 combination linked to TNXB:c.4010G>A, p.Arg1337His

1 disease linked to TNXB:c.4010G>A, p.Arg1337His

Syndromic genetic keratoconus

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