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Details for MMP11:c.232C>T, p.Pro78Ser

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
24121497	23779310

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.232C>T

PROTEIN CHANGE

p.Pro78Ser

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
0.0008833	0.000461	0.0004088	0.0	0.0	0.0004307	0.001618	0.0006707	0.0001321

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.337789	Polymorphism

DBSNP ID

1 combination linked to MMP11:c.232C>T, p.Pro78Ser

1 disease linked to MMP11:c.232C>T, p.Pro78Ser

Recurrent Pregnancy Loss,Recurrent implantation failure,Primary infertility

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