Variant #0000040202 (NC_000002.11:g.215845332C>T, ABCA12(NM_173076.2):c.4615G>A)
Individual ID |
00019771 |
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.215845332C>T |
DNA change (hg38) |
g.214980608C>T |
Published as |
- |
ISCN |
- |
DB-ID |
ABCA12_000057 |
Variant remarks |
- |
Reference |
PubMed: Lefevre 2003 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Marianne Vos (LOVD-team) |
Database submission license |
No license selected |
Created by |
Marianne Vos (LOVD-team) |

Variant on transcripts
Screenings
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