Variant #0000992477 (NC_000002.11:g.215845329C>A, NM_173076.2:c.4618G>T (ABCA12))
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.215845329C>A |
DNA change (hg38) |
- |
Published as |
ABCA12(NM_173076.2):c.4618G>T (p.(Ala1540Ser)) |
ISCN |
- |
DB-ID |
ABCA12_000117 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
4.0E-5 View details |
Owner |
VKGL-NL_Leiden |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Leiden |
Date created |
2024-08-28 13:07:21 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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