Genomic variant #0000291508

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44091652C>T
DNA change (hg38) -
Published as MAPT(NM_005910.5):c.959C>T (p.S320F)
ISCN -
DB-ID MAPT_000070 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.*14620C>T pathogenic r.(=) p.(=)
MAPT NM_001123066.3 +/. - c.1964C>T pathogenic r.(?) p.(Ser655Phe)
MAPT NM_016835.4 +/. - c.1910C>T pathogenic r.(?) p.(Ser637Phe)