Genomic variant #0000249999

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.44060859A>G
DNA change (hg38) -
Published as MAPT(NM_001123066.3):c.689A>G (p.Q230R)
ISCN -
DB-ID MAPT_000017 See all 4 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) 0.04185 View details
Owner VKGL-NL_VUmc




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
STH NM_001007532.2 -/. - c.-15787A>G benign r.(?) p.(=)
MAPT NM_001123066.3 -/. - c.689A>G benign r.(?) p.(Gln230Arg)
MAPT NM_016835.4 -/. - c.689A>G benign r.(?) p.(Gln230Arg)