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Details for MTHFR:c.1409A>T, p.Glu470Val

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
11854085	11794028

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1409A>T

PROTEIN CHANGE

p.Glu470Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001561	0.0004922	0.0006652	9.942e-05	0.0	0.003775	0.002412	0.0008165	0.0

ESP
AA	EA
0.0006809	0.001279

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.307162	Polymorphism

DBSNP ID

1 combination linked to MTHFR:c.1409A>T, p.Glu470Val

1 disease linked to MTHFR:c.1409A>T, p.Glu470Val

Isolated anencephaly

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