Variant #0000328770 (NC_000021.8:g.47742583A>T, NM_006031.5:c.-1560A>T (PCNT))
Chromosome |
21 |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.47742583A>T |
DNA change (hg38) |
g.46322669A>T |
Published as |
C21orf58(NM_058180.3):c.70T>A (p.(Ser24Thr)) |
ISCN |
- |
DB-ID |
C21orf58_000002 |
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_Leiden |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Leiden |
Date created |
2018-01-15 20:58:59 +01:00 (CET) |
Date last edited |
2025-02-07 18:57:27 +01:00 (CET) |

Variant on transcripts
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