Variant #0000040161 (NC_000002.11:g.215862443A>C, NM_173076.2:c.3270T>G (ABCA12))
Individual ID |
00019740 |
Chromosome |
2 |
Allele |
Parent #1 |
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.215862443A>C |
DNA change (hg38) |
g.214997719A>C |
Published as |
- |
ISCN |
- |
DB-ID |
ABCA12_000033 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Thomas 2008 |
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 |
2014-08-18 22:36:54 +02:00 (CEST) |
Date last edited |
2016-11-16 21:19:08 +01:00 (CET) |

Variant on transcripts
Screenings
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