Details for MAPT:c.671T>G, p.Val224Gly

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
4406084145983475
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE MAPT
REFERENCE ALLELE T
ALTERNATE ALLELE G
TRANSCRIPT NM_016835.4
CDNA CHANGE c.671T>G
PROTEIN CHANGE p.Val224Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00080.00.00.00.0040.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.002190.00071180.001660.0024560.00.00051570.00380.0030143.301e-05

ESP
AAEA
0.00090910.004189
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.248431Polymorphism
DBSNP ID rs141120474
1 combination linked to MAPT:c.671T>G, p.Val224Gly OLI661
1 disease linked to MAPT:c.671T>G, p.Val224Gly Amyotrophic lateral sclerosis
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