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Details for C19orf12:c.335G>A, p.Trp112Ter

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
30193743	29702836

VARIANT EFFECT

nonsense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.335G>A

PROTEIN CHANGE

p.Trp112Ter

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	8.180312	Disease causing

DBSNP ID

1 combination linked to C19orf12:c.335G>A, p.Trp112Ter

1 disease linked to C19orf12:c.335G>A, p.Trp112Ter

Mitochondrial membrane protein-associated neurodegeneration

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