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Details for MLH3:c.3466G>A, p.Val1156Ile

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
75506718	75040015

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.3466G>A

PROTEIN CHANGE

p.Val1156Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
7.189e-05	0.0	0.0	0.0	0.0	4.78e-05	0.0001496	0.0	0.0

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	2.826727	Disease causing

DBSNP ID

1 combination linked to MLH3:c.3466G>A, p.Val1156Ile

1 disease linked to MLH3:c.3466G>A, p.Val1156Ile

Primary ovarian failure

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