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Details for MMP10:c.497-2G>A,

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
102649482	102778751

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.497-2G>A

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0086	0.0015	0.0101	0.0	0.0179	0.0164

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01355	0.003942	0.01225	0.01972	0.000109	0.003837	0.01812	0.01682	0.01541

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.768937	Polymorphism

DBSNP ID

2 combinations linked to MMP10:c.497-2G>A,

OLI1232; OLI1234

2 diseases linked to MMP10:c.497-2G>A,

Recurrent Pregnancy Loss,Recurrent implantation failure,Primary infertility; Recurrent Pregnancy Loss

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