Genomic variant #0000243217

Individual ID 00148905
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.44087690T>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID MAPT_000047 See all 7 reported entries
Variant remarks Point mutation in coding region predicting an amino acid substitution
Reference -
ClinVar ID -
dbSNP ID rs63750756
Origin Unknown
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Marc Cruts




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MAPT NM_001123066.3 +/+ 12 c.1842T>G - r.(?) p.(Asn614Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000149761 DNA ? - - MAPT 1 Marc Cruts