Genomic variant #0000087449

Individual ID 00057200
Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44060841T>G
DNA change (hg38) g.45983475T>G
Published as -
ISCN -
DB-ID MAPT_000002 See all 5 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00308 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.671T>G - r.(?) p.(Val224Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000057161 DNA SEQ-NG - - MAPT 1 Zafar Iqbal