Variant #0000118841 (NC_000003.11:g.49457776C>T, AMT(NM_000481.3):c.340-1G>A)

Individual ID 00074323
Chromosome 3
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.49457776C>T
DNA change (hg38) g.49420343C>T
Published as -
ISCN -
DB-ID AMT_000069 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan Van Hove
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AMT NM_000481.3 +/. 3i c.340-1G>A r.spl p.(Gly114_GlyLeun157del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000074484 DNA SEQ - - AMT 2 Johan Van Hove