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Details for MTHFR:c.136C>T, p.Arg46Trp

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
11863038	11802981

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.136C>T

PROTEIN CHANGE

p.Arg46Trp

ALLELE FREQUENCY

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

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.000199	0.0	2.892e-05	0.0	0.002175	0.0	3.519e-05	0.0	0.0001635

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.641958	Disease causing

DBSNP ID

1 combination linked to MTHFR:c.136C>T, p.Arg46Trp

1 disease linked to MTHFR:c.136C>T, p.Arg46Trp

Rare pervasive developmental disorder

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