Variant #0000675041 (NC_000002.11:g.74787411A>G, M1AP(NM_138804.4):c.1289T>C)

Individual ID 00307045
Chromosome 2
Allele Parent #2
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.74787411A>G
DNA change (hg38) g.74560284A>G
Published as -
ISCN -
DB-ID M1AP_000003
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) 1.0E-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     
M1AP NM_138804.4 +/. - c.1289T>C r.(?) p.(Leu430Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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