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Details for PMM2:c.442G>A, p.Asp148Asn

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
8905030	8811173

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.442G>A

PROTEIN CHANGE

p.Asp148Asn

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
0.0001588	9.362e-05	0.0	0.0	0.0	0.0	0.0003543	0.0	8.258e-05

ESP
AA	EA
0.0002276	0.0005832

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.57961	Disease causing

DBSNP ID

1 combination linked to PMM2:c.442G>A, p.Asp148Asn

1 disease linked to PMM2:c.442G>A, p.Asp148Asn

Transposition of the great arteries

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