Genomic variant #0000291499

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.44073988C>T
DNA change (hg38) -
Published as MAPT(NM_005910.5):c.780C>T (p.I260=)
ISCN -
DB-ID MAPT_000103
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.-2658C>T likely benign r.(?) p.(=)
MAPT NM_001123066.3 -?/. - c.1785C>T likely benign r.(?) p.(=)
MAPT NM_016835.4 -?/. - c.1731C>T likely benign r.(?) p.(=)