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Details for DAO:c.1034C>T, p.Ser345Phe

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
109294301	108900525

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1034C>T

PROTEIN CHANGE

p.Ser345Phe

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
0.000187	6.152e-05	0.0	0.0	0.0	4.624e-05	0.000396	0.0	0.0

ESP
AA	EA
0.0	0.0003488

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.313738	None

DBSNP ID

1 combination linked to DAO:c.1034C>T, p.Ser345Phe

1 disease linked to DAO:c.1034C>T, p.Ser345Phe

Amyotrophic lateral sclerosis

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