Genomic variant #0000291493

Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44068928G>A
DNA change (hg38) -
Published as MAPT:c.532G>A (A178T)
ISCN -
DB-ID MAPT_000025 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland; correct HGVS to be checked
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.01538 View details
Owner VKGL-NL_Rotterdam




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MAPT NM_001123066.3 -/. - c.1483G>A benign r.(?) p.(Ala495Thr)
MAPT NM_016835.4 -/. - c.1483G>A benign r.(?) p.(Ala495Thr)