Variant #0000040174 (NC_000002.11:g.215855757T>C, NC_000002.11(NM_173076.2):c.3295-2A>G (ABCA12))
Individual ID |
00019749 |
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.215855757T>C |
DNA change (hg38) |
g.214991033T>C |
Published as |
IVS23-2A>G |
ISCN |
- |
DB-ID |
ABCA12_000041 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Akiyama 2005 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2014-08-19 22:47:55 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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