Variant #0000040115 (NC_000002.11:g.(215855756_215862418)_(215862534_15865428)del, NC_000002.11(NM_173076.2):c.(3179+1_3180-1)_(3294+1_3295-1)del (ABCA12))
Individual ID |
00019697 |
Chromosome |
2 |
Allele |
Both (homozygous) |
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.(215855756_215862418)_(215862534_15865428)del |
DNA change (hg38) |
- |
Published as |
del exon 23 |
ISCN |
- |
DB-ID |
ABCA12_000001 |
Variant remarks |
- |
Reference |
PubMed: Kelsell 2005 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Marianne Vos (LOVD-team) |
Database submission license |
No license selected |
Created by |
Marianne Vos (LOVD-team) |
Date created |
2014-08-17 21:14:00 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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