Genomic variant #0000243306

Individual ID 00148973
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.44087784C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID MAPT_000065 See all 28 reported entries
Variant remarks Point mutation in intronic region affecting splicing of exon 10
Reference -
ClinVar ID -
dbSNP ID rs63751011
Origin Unknown
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Marc Cruts




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MAPT NM_001123066.3 +/+ 12i c.1920+16C>T - r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000149829 DNA ? - - MAPT 1 Marc Cruts