Genomic variant #0000087448

Individual ID 00057199
Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44049267C>T
DNA change (hg38) g.45971901C>T
Published as -
ISCN -
DB-ID MAPT_000009
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Zafar Iqbal




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MAPT NM_016835.4 ?/. - c.176C>T - r.(?) p.(Pro59Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000057160 DNA SEQ-NG - - MAPT 1 Zafar Iqbal