Variant #0000736867 (NC_000016.9:g.79633119_79633124dup, MAF(NM_001031804.2):c.696_701dup)

Individual ID 00336007
Chromosome 16
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.79633119_79633124dup
DNA change (hg38) g.79599222_79599227dup
Published as -
ISCN -
DB-ID MAF_000033
Variant remarks no genotypes reported
Reference PubMed: Sergouniotis 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/181 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
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     
MAF NM_001031804.2 ?/. - c.696_701dup r.(?) p.(Gly237_Gly238dup)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000337237 DNA SEQ-NG - gene panel MAF 1 LOVD