Variant #0000261017 (NC_000022.10:g.36662046_36662051del, NM_145343.2:c.1212_1217del (APOL1))
Chromosome |
22 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.36662046_36662051del |
DNA change (hg38) |
g.36266000_36266005del |
Published as |
APOL1(NM_003661.4):c.1164_1169delTTATAA (p.N388_Y389del), APOL1(NM_145343.2):c.1212_1217delTTATAA (p.N404_Y405del) |
ISCN |
- |
DB-ID |
APOL1_000018 |
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) |
Retrieve |
Owner |
VKGL-NL_Utrecht |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Utrecht |
Date created |
2018-01-15 20:58:59 +01:00 (CET) |
Date last edited |
2024-02-26 20:06:56 +01:00 (CET) |

Variant on transcripts
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