Variant #0000295697 (NC_000022.10:g.50962782C>G, NM_001257988.1:c.*1417G>C (TYMP))
| Chromosome |
22 |
| Allele |
Unknown |
| Affects function (as reported) |
Does not affect function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
benign |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.50962782C>G |
| DNA change (hg38) |
g.50524353C>G |
| Published as |
NCAPH2(NM_001185011.2):c.*978C>G, SCO2(NM_001169109.2):c.59G>C (p.R20P) |
| ISCN |
- |
| DB-ID |
NCAPH2_000012 See all 2 reported entries |
| 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) |
0.639 View details |
| Owner |
VKGL-NL_AMC |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
VKGL-NL_AMC |
| Date created |
2018-01-15 20:58:59 +01:00 (CET) |
| Date last edited |
2023-01-11 15:44:22 +01:00 (CET) |

Variant on transcripts
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