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Details for MTHFD1L:c.1841C>T, p.Ala614Val

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
151293105	150971969

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1841C>T

PROTEIN CHANGE

p.Ala614Val

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
7.955e-06	0.0	0.0	9.921e-05	0.0	0.0	0.0	0.000163	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.993196	Disease causing

DBSNP ID

1 combination linked to MTHFD1L:c.1841C>T, p.Ala614Val

1 disease linked to MTHFD1L:c.1841C>T, p.Ala614Val

Isolated anencephaly

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