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Details for MMP14:c.1237G>A, p.Asp413Asn

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
23313925	22844716

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1237G>A

PROTEIN CHANGE

p.Asp413Asn

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
1.591e-05	0.0	0.0	0.0	5.437e-05	0.0	8.792e-06	0.0	6.533e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.688074	Disease causing

DBSNP ID

1 combination linked to MMP14:c.1237G>A, p.Asp413Asn

1 disease linked to MMP14:c.1237G>A, p.Asp413Asn

Mayer-Rokitansky-Küster-Hauser syndrome

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