Variant #0000596943 (NC_000017.10:g.66985179_66985181del, ABCA9(NM_080283.3):c.4035_4037del)

Individual ID 00265203
Chromosome 17
Allele Unknown
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.66985179_66985181del
DNA change (hg38) g.68989038_68989040del
Published as -
ISCN -
DB-ID ABCA9_000003
Variant remarks -
Reference PubMed: Kiselev 2019
ClinVar ID -
dbSNP ID rs755035315
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     
ABCA9 NM_080283.3 ?/. - c.4035_4037del r.(?) p.(Thr1346del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000266323 DNA SEQ;SEQ-NG - - MYOF 46 Johan den Dunnen