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Details for KMT2C:c.10432C>G, p.Gln3478Glu

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
151860230	152163145

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.10432C>G

PROTEIN CHANGE

p.Gln3478Glu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.003	0.0	0.0043	0.0	0.003	0.0092

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003945	0.0009229	0.0007518	0.0006947	0.0	0.003465	0.005706	0.004237	0.006337

ESP
AA	EA
0.0009079	0.005814

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.21637	Polymorphism

DBSNP ID

1 combination linked to KMT2C:c.10432C>G, p.Gln3478Glu

1 disease linked to KMT2C:c.10432C>G, p.Gln3478Glu

Amyotrophic lateral sclerosis

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