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Details for ANO5:c.2141C>G, p.Thr714Ser

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
22294441	22272895

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.2141C>G

PROTEIN CHANGE

p.Thr714Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0008869	0.0	0.001012	0.001389	0.0	0.0	0.001082	0.001629	0.001339

ESP
AA	EA
0.0	0.000814

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.14412	Disease causing

DBSNP ID

1 combination linked to ANO5:c.2141C>G, p.Thr714Ser

1 disease linked to ANO5:c.2141C>G, p.Thr714Ser

Limb-girdle muscular dystrophy

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