Genomic variant #0000279592

Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44039824G>A
DNA change (hg38) -
Published as MAPT(NM_001123066.3):c.121G>A (p.A41T)
ISCN -
DB-ID MAPT_000085
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) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
STH NM_001007532.2 ?/. - c.-36822G>A VUS r.(?) p.(=)
MAPT NM_001123066.3 ?/. - c.121G>A VUS r.(?) p.(Ala41Thr)
MAPT NM_016835.4 ?/. - c.121G>A VUS r.(?) p.(Ala41Thr)