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Details for PYGM:c.145_146delCCinsTA, p.Pro49Ter

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
64527225	64759753

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

GG

ALTERNATE ALLELE

TA

TRANSCRIPT

CDNA CHANGE

c.145_146delCCinsTA

PROTEIN CHANGE

p.Pro49Ter

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
None	None	6.493678	None

DBSNP ID

1 combination linked to PYGM:c.145_146delCCinsTA, p.Pro49Ter

1 disease linked to PYGM:c.145_146delCCinsTA, p.Pro49Ter

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

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