This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for PMM2:c.357C>G, p.Phe119Leu

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
8904945	8811088

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.357C>G

PROTEIN CHANGE

p.Phe119Leu

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.957916	Disease causing

DBSNP ID

1 combination linked to PMM2:c.357C>G, p.Phe119Leu

1 disease linked to PMM2:c.357C>G, p.Phe119Leu

Isolated constitutional thrombocytopenia,PMM2-CDG

Found any issues with the data on this page? Report this entry.