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Details for CP:c.313delG, p.Val105PhefsTer5

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
148930318	149212531

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

AC

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.313delG

PROTEIN CHANGE

p.Val105PhefsTer5

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	2.85464	Disease causing

DBSNP ID

1 combination linked to CP:c.313delG, p.Val105PhefsTer5

1 disease linked to CP:c.313delG, p.Val105PhefsTer5

Mitochondrial membrane protein-associated neurodegeneration

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