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Details for TRAPPC11:c.3092C>G, p.Pro1031Arg

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
184627996	183706843

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.3092C>G

PROTEIN CHANGE

p.Pro1031Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0034	0.0	0.0	0.0169	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001114	0.0	0.0	0.002282	0.01142	0.001386	0.0001319	0.0	6.534e-05

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	2.942646	Polymorphism

DBSNP ID

1 combination linked to TRAPPC11:c.3092C>G, p.Pro1031Arg

1 disease linked to TRAPPC11:c.3092C>G, p.Pro1031Arg

Limb-girdle muscular dystrophy

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