Genomic variant #0000243229

Individual ID 00148914
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.44087740_44087742del
DNA change (hg38) g.46010374_46010376del
Published as -
ISCN -
DB-ID MAPT_000051 See all 2 reported entries
Variant remarks Homozygous mutation. /r/Trinucleotide deletion resulting in deletion of 1 amino acid
Reference -
ClinVar ID -
dbSNP ID rs63751392
Origin Unknown
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Marc Cruts
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MAPT NM_001123066.3 +/+ 12 c.1892_1894del r.(?) p.(Asn631del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000149770 DNA ? - - MAPT 1 Marc Cruts