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Details for TPO:c.1949G>A, p.Gly650=

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
1497754	1493982

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1949G>A

PROTEIN CHANGE

p.Gly650=

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.001	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.136485	Disease causing

DBSNP ID

1 combination linked to TPO:c.1949G>A, p.Gly650=

1 disease linked to TPO:c.1949G>A, p.Gly650=

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