Genomic variant #0000474691

Individual ID 00231261
Chromosome 17
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.44101376G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID MAPT_000001
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner sudha kohli




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MAPT NM_016835.4 +/? 14 c.2116G>A pathogenic r.(?) p.(Gly706Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000232359 DNA SEQ - - MAPT 1 sudha kohli