Variant #0000675034 (NC_000002.11:g.74867255A>G, M1AP(NM_138804.4):c.148T>C)

Individual ID 00307045
Chromosome 2
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.74867255A>G
DNA change (hg38) g.74640128A>G
Published as -
ISCN -
DB-ID M1AP_000007
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.148T>C r.(?) p.(Ser50Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308186 DNA SEQ;SEQ-NG - WES M1AP 2 Johan den Dunnen