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Details for PMM2:c.470T>C, p.Phe157Ser

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
8905517	8811660

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.470T>C

PROTEIN CHANGE

p.Phe157Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002944	0.000123	0.0002892	0.0	0.0	0.0	0.0005366	0.000163	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.08306	Disease causing

DBSNP ID

1 combination linked to PMM2:c.470T>C, p.Phe157Ser

1 disease linked to PMM2:c.470T>C, p.Phe157Ser

Isolated constitutional thrombocytopenia,PMM2-CDG

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