Genomic variant #0000291496

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44060834C>A
DNA change (hg38) -
Published as MAPT(NM_001123066.3):c.664C>A (p.R222S)
ISCN -
DB-ID MAPT_000093
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) 0.00038 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
STH NM_001007532.2 -?/. - c.-15812C>A likely benign r.(?) p.(=)
MAPT NM_001123066.3 -?/. - c.664C>A likely benign r.(?) p.(Arg222Ser)
MAPT NM_016835.4 -?/. - c.664C>A likely benign r.(?) p.(Arg222Ser)