Genomic variant #0000283631

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44091637T>G
DNA change (hg38) -
Published as MAPT(NM_001123066.3):c.1949T>G (p.L650R)
ISCN -
DB-ID MAPT_000067 See all 4 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_VUmc




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
STH NM_001007532.2 +/. - c.*14605T>G pathogenic r.(=) p.(=)
MAPT NM_001123066.3 +/. - c.1949T>G pathogenic r.(?) p.(Leu650Arg)
MAPT NM_016835.4 +/. - c.1895T>G pathogenic r.(?) p.(Leu632Arg)