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Details for MLH3:c.3943G>A, p.Glu1315Lys

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
75497290	75030587

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.3943G>A

PROTEIN CHANGE

p.Glu1315Lys

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
3.977e-06	0.0	0.0	0.0	0.0	0.0	8.791e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	4.194463	Polymorphism

DBSNP ID

1 combination linked to MLH3:c.3943G>A, p.Glu1315Lys

1 disease linked to MLH3:c.3943G>A, p.Glu1315Lys

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