Genomic variant #0000283632

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44096041C>T
DNA change (hg38) -
Published as MAPT(NM_001123066.3):c.2060C>T (p.S687L)
ISCN -
DB-ID MAPT_000076 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) 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.*19009C>T pathogenic r.(=) p.(=)
MAPT NM_001123066.3 +/. - c.2060C>T pathogenic r.(?) p.(Ser687Leu)
MAPT NM_016835.4 +/. - c.2006C>T pathogenic r.(?) p.(Ser669Leu)