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Details for TOM1L2:c.98A>C, p.Asn33Thr

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
17810800	17907486

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.98A>C

PROTEIN CHANGE

p.Asn33Thr

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
3.977e-06	0.0	0.0	0.0	0.0	0.0	8.792e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.778666	Polymorphism

DBSNP ID

1 combination linked to TOM1L2:c.98A>C, p.Asn33Thr

1 disease linked to TOM1L2:c.98A>C, p.Asn33Thr

Overgrowth or tall stature syndrome with skeletal involvement

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