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Details for MED12:c.4232G>A, p.Ser1411Asn

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
70352035	71132185

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.4232G>A

PROTEIN CHANGE

p.Ser1411Asn

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
1.104e-05	0.0	0.0	0.0	0.0	0.0	2.463e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.289142	Polymorphism

DBSNP ID

1 combination linked to MED12:c.4232G>A, p.Ser1411Asn

1 disease linked to MED12:c.4232G>A, p.Ser1411Asn

Isolated anencephaly

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