Genomic variant #0000222874

Individual ID 00132795
Chromosome 17
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44087745A>G
DNA change (hg38) g.46010379A>G
Published as ex10 AAA>AAG (Lys298Glu)
ISCN -
DB-ID MAPT_000010
Variant remarks effect on splicing confirmed with mini-gene construct
Reference PubMed: Iovino 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MAPT NM_016835.4 +/. 10 c.1843A>G - r.1774_1866del p.Ile595_Ile625del



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000133630 DNA SEQ blood - MAPT 1 Johan den Dunnen