This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for MAPT:c.1667G>C, p.Arg556Pro

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
44073870	45996504

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.1667G>C

PROTEIN CHANGE

p.Arg556Pro

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
Deleterious	Damaging	3.642913	Polymorphism

DBSNP ID

2 combinations linked to MAPT:c.1667G>C, p.Arg556Pro

OLI1470; OLI1471

1 disease linked to MAPT:c.1667G>C, p.Arg556Pro

NON RARE IN EUROPE: Alzheimer disease

Found any issues with the data on this page? Report this entry.