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Details for MAPT:c.683C>G, p.Ser228Cys

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
44060853	45983487

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.683C>G

PROTEIN CHANGE

p.Ser228Cys

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
2.46e-05	0.000391	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	1.811026	Polymorphism

DBSNP ID

1 combination linked to MAPT:c.683C>G, p.Ser228Cys

1 disease linked to MAPT:c.683C>G, p.Ser228Cys

Amyotrophic lateral sclerosis

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