Genomic variant #0000279600

Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44051814C>T
DNA change (hg38) -
Published as MAPT(NM_005910.5):c.284C>T (p.T95M)
ISCN -
DB-ID MAPT_000090 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner VKGL-NL_AMC




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
STH NM_001007532.2 ?/. - c.-24832C>T VUS r.(?) p.(=)
MAPT NM_001123066.3 ?/. - c.284C>T VUS r.(?) p.(Thr95Met)
MAPT NM_016835.4 ?/. - c.284C>T VUS r.(?) p.(Thr95Met)