Variant #0000005986 (NC_000017.10:g.44101427C>T, MAPT(NM_005910.5):c.1216C>T)

Individual ID 00006001
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44101427C>T
Reference Gauthier-Kemper A et al. (2011)
DB-ID MAPT_000003 See all 9 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
MAPT NM_005910.5 ./. 12 c.1216C>T r.(?) p.(Arg406Trp) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006021 ? ? MAPT 1 XY Liu