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Details for MTHFS:c.320C>T, p.Thr107Ile

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
80181494	79889152

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.320C>T

PROTEIN CHANGE

p.Thr107Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0008	0.0	0.0	0.001	0.002

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0007675	0.0001845	8.675e-05	0.0	0.0003806	0.0005083	0.001143	0.0004886	0.001176

ESP
AA	EA
0.0	0.0005814

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.304439	Disease causing

DBSNP ID

1 combination linked to MTHFS:c.320C>T, p.Thr107Ile

1 disease linked to MTHFS:c.320C>T, p.Thr107Ile

Isolated anencephaly

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