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Details for MAST4:c.1040C>T, p.Thr347Met

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
66396390	67100562

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1040C>T

PROTEIN CHANGE

p.Thr347Met

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
6.02e-05	6.457e-05	2.896e-05	9.936e-05	0.0	0.0	7.969e-05	0.0004957	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.15681	Polymorphism

DBSNP ID

1 combination linked to MAST4:c.1040C>T, p.Thr347Met

2 diseases linked to MAST4:c.1040C>T, p.Thr347Met

Juvenile myoclonic epilepsy; Generalized epilepsy with febrile seizures-plus

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