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Details for MAPT:c.1293delinsTT, p.Cys432LeufsTer9

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
44067354	45989988

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

TT

TRANSCRIPT

CDNA CHANGE

c.1293delinsTT

PROTEIN CHANGE

p.Cys432LeufsTer9

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.811957	None

DBSNP ID

1 combination linked to MAPT:c.1293delinsTT, p.Cys432LeufsTer9

1 disease linked to MAPT:c.1293delinsTT, p.Cys432LeufsTer9

Amyotrophic lateral sclerosis

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