Variant #0000408333 (NC_000016.9:g.79632991G>T, MAF(NM_001031804.2):c.809C>A)

Individual ID 00183351
Chromosome 16
Allele Paternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.79632991G>T
DNA change (hg38) g.79599094G>T
Published as -
ISCN -
DB-ID MAF_000025 See all 2 reported entries
Variant remarks -
Reference PubMed: Dudakova 2017
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     
MAF NM_001031804.2 +/. - c.809C>A r.(?) p.(Ser270Tyr)
MAF NM_005360.4 +/. - c.809C>A r.(?) p.(Ser270Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184312 DNA SEQ - WES CRYGD, MAF 2 Johan den Dunnen