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Details for ALDH5A1:c.612G>A, p.Trp204Ter

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
24505099	24504871

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.612G>A

PROTEIN CHANGE

p.Trp204Ter

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
4.772e-05	6.152e-05	0.0	0.0	0.0	0.0	9.669e-05	0.0	0.0

ESP
AA	EA
0.000227	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	8.791231	Disease causing

DBSNP ID

1 combination linked to ALDH5A1:c.612G>A, p.Trp204Ter

1 disease linked to ALDH5A1:c.612G>A, p.Trp204Ter

Rare pervasive developmental disorder

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