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Details for ALDH5A1:c.538C>T, p.His180Tyr

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
24503590	24503362

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.538C>T

PROTEIN CHANGE

p.His180Tyr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.3147	0.466	0.219	0.1667	0.3231	0.3221

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.3101	0.448	0.2115	0.2437	0.1857	0.3362	0.3383	0.3027	0.3237

ESP
AA	EA
0.4396	0.3362

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.420902	Polymorphism

DBSNP ID

1 combination linked to ALDH5A1:c.538C>T, p.His180Tyr

1 disease linked to ALDH5A1:c.538C>T, p.His180Tyr

Rare pervasive developmental disorder

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