Variant #0000001347 (NC_000017.10:g.44087499C>T, MAPT(NM_001123066.3):c.1828-177C>T)

Individual ID 00001347
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44087499C>T
Reference Sobrido MJ1, Miller BL, Havlioglu N, Zhukareva V, Jiang Z, Nasreddine ZS, Lee VM, Chow TW, Wilhelmsen KC, Cummings JL, Wu JY, Geschwind DH.(2003)
DB-ID MAPT_000049
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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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_001123066.3 ./. IVS10 c.1828-177C>T r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001347 ? ? MAPT 1 Y Yang