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Details for C3:c.3313A>C, p.Lys1105Gln

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
6693012	6693001

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.3313A>C

PROTEIN CHANGE

p.Lys1105Gln

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
Deleterious	Damaging	3.858184	Polymorphism

DBSNP ID

1 combination linked to C3:c.3313A>C, p.Lys1105Gln

1 disease linked to C3:c.3313A>C, p.Lys1105Gln

Atypical hemolytic uremic syndrome

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