Genomic variant #0000279601

Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44060775C>T
DNA change (hg38) -
Published as MAPT(NM_001123066.3):c.605C>T (p.P202L)
ISCN -
DB-ID MAPT_000016 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) 0.16451 View details
Owner VKGL-NL_AMC




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
STH NM_001007532.2 -/. - c.-15871C>T benign r.(?) p.(=)
MAPT NM_001123066.3 -/. - c.605C>T benign r.(?) p.(Pro202Leu)
MAPT NM_016835.4 -/. - c.605C>T benign r.(?) p.(Pro202Leu)