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Details for SERPINA1:c.1096G>A, p.Glu366Lys

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
94844947	94378610

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1096G>A

PROTEIN CHANGE

p.Glu366Lys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.004	0.0	0.0043	0.0	0.0169	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01113	0.002892	0.00379	0.008436	0.0	0.01779	0.01841	0.008803	6.533e-05

ESP
AA	EA
0.004539	0.01628

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	2.030275	Disease causing

DBSNP ID

1 combination linked to SERPINA1:c.1096G>A, p.Glu366Lys

1 disease linked to SERPINA1:c.1096G>A, p.Glu366Lys

Cystic fibrosis

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