Genomic variant #0000447050

Individual ID 00213628
Chromosome 17
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44087782C>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID MAPT_000114
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gemeinschaftspraxis für Humangenetik Dresden




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MAPT NM_016835.4 +?/. - c.1866+14C>A - r.spl? p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000214697 DNA SEQ-NG - - MAPT 1 Gemeinschaftspraxis für Humangenetik Dresden