Variant #0000675036 (NC_000002.11:g.74808894dup, M1AP(NM_138804.4):c.676dup)

Individual ID 00307047
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.74808894dup
DNA change (hg38) g.74581767dup
Published as -
ISCN -
DB-ID M1AP_000006 See all 8 reported entries
Variant remarks -
Reference PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
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     
M1AP NM_138804.4 +/. - c.676dup r.(?) p.(Trp226Leufs*4)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308188 DNA SEQ;SEQ-NG - WES M1AP 1 Johan den Dunnen