Variant #0000694173 (NC_000003.11:g.119422069G>C, MAATS1(NM_033364.3):c.124G>C)

Individual ID 00311403
Chromosome 3
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.119422069G>C
DNA change (hg38) g.119703222G>C
Published as -
ISCN -
DB-ID MAATS1_000003 See all 4 reported entries
Variant remarks effect on RNA predicted from expression cloning minigene splicing assay
Reference PubMed: Martinez 2020
ClinVar ID -
dbSNP ID rs149348782
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 9.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MAATS1 NM_033364.3 +/. - c.124G>C r.[(124g>c;124_125ins124+1_124+49)] p.(Asp42Argfs*15)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312573 DNA SEQ;SEQ-NG - - MAATS1 1 Johan den Dunnen