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Details for MTHFD1L:c.1691G>A, p.Arg564His

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
151270231	150949095

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1691G>A

PROTEIN CHANGE

p.Arg564His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0062	0.0015	0.0086	0.0	0.0119	0.0112

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01238	0.003137	0.006014	0.005755	0.0005982	0.00426	0.02003	0.01434	0.01062

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.8811	Polymorphism

DBSNP ID

1 combination linked to MTHFD1L:c.1691G>A, p.Arg564His

1 disease linked to MTHFD1L:c.1691G>A, p.Arg564His

NON RARE IN EUROPE: Alzheimer disease

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