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Details for TPP1:c.622C>T, p.Arg208Ter

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
6638271	6617040

VARIANT EFFECT

nonsense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.622C>T

PROTEIN CHANGE

p.Arg208Ter

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
0.0002229	0.0	5.784e-05	0.0004967	0.0	0.0	0.0003963	0.0004891	3.267e-05

ESP
AA	EA
0.0	0.0004655

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	6.633744	Disease causing

DBSNP ID

1 combination linked to TPP1:c.622C>T, p.Arg208Ter

1 disease linked to TPP1:c.622C>T, p.Arg208Ter

Mitochondrial membrane protein-associated neurodegeneration

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