Variant #0000040187 (NC_000002.11:g.215846949C>T, NM_173076.2:c.4541G>A (ABCA12))
Individual ID |
00019758 |
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.215846949C>T |
DNA change (hg38) |
g.214982225C>T |
Published as |
Arg1514His |
ISCN |
- |
DB-ID |
ABCA12_000052 See all 2 reported entries |
Variant remarks |
no variant found 2nd chromosome |
Reference |
PubMed: Sakai 2009 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0 View details |
Owner |
Marianne Vos (LOVD-team) |
Database submission license |
No license selected |
Created by |
Marianne Vos (LOVD-team) |
Date created |
2014-08-19 22:47:55 +02:00 (CEST) |
Date last edited |
2016-11-16 21:19:08 +01:00 (CET) |

Variant on transcripts
Screenings
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