Genomic variant #0000291483

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.44101376G>A
DNA change (hg38) g.46024010G>A
Published as MAPT(NM_005910.5):c.1165G>A (p.G389R)
ISCN -
DB-ID MAPT_000080 See all 3 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_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
STH NM_001007532.2 +/. - c.*24344G>A r.(=) p.(=)
MAPT NM_001123066.3 +/. - c.2170G>A r.(?) p.(Gly724Arg)
MAPT NM_016835.4 +/. - c.2116G>A r.(?) p.(Gly706Arg)