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Details for CAPN3:c.550delA, p.Thr184fs

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
42680000	42387802

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

CA

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.550delA

PROTEIN CHANGE

p.Thr184fs

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
0.0002148	0.0	0.0	0.0	0.0	0.000231	0.0004221	0.0001629	0.0

ESP
AA	EA
0.005629	0.003756

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	3.448443	Disease causing

DBSNP ID

1 combination linked to CAPN3:c.550delA, p.Thr184fs

1 disease linked to CAPN3:c.550delA, p.Thr184fs

Limb-girdle muscular dystrophy

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