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Details for PTPN11:p.Thr468Met

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
112926270	112488466

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Thr468Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
3.981e-06	0.0	0.0	0.0	0.0	4.619e-05	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.11155	Disease causing

DBSNP ID

1 combination linked to PTPN11:p.Thr468Met

2 diseases linked to PTPN11:p.Thr468Met

Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy

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