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Details for MYOC:c.144G>T, p.Gln48His

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
171621608	171652468

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.144G>T

PROTEIN CHANGE

p.Gln48His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0026	0.0	0.0	0.0	0.0	0.0133

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0009819	6.152e-05	0.0	0.0	5.437e-05	0.0	0.0	0.000163	0.007937

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.127939	Disease causing

DBSNP ID

1 combination linked to MYOC:c.144G>T, p.Gln48His

1 disease linked to MYOC:c.144G>T, p.Gln48His

Congenital glaucoma

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