Variant #0000467343 (NC_000007.13:g.150910981G>A, ABCF2(NM_005692.3):c.1868+163C>T)

Individual ID 00226408
Chromosome 7
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.150910981G>A
DNA change (hg38) g.151213895G>A
Published as -
ISCN -
DB-ID ABCF2_000003
Variant remarks -
Reference PubMed: Mavros 2018
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency 4/56 reads
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     
ABCF2 NM_005692.3 -?/. - c.1868+163C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000227496 DNA SEQ;SEQ-NG - trio WES TRRAP 10 Johan den Dunnen