Variant #0000613506 (NC_000011.9:g.63978759C>T, NM_031471.5:c.527C>T (FERMT3))
| Chromosome |
11 |
| 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.63978759C>T |
| DNA change (hg38) |
g.64211287C>T |
| Published as |
FERMT3(NM_031471.6):c.527C>T (p.A176V), FERMT3(NM_178443.2):c.527C>T (p.A176V) |
| ISCN |
- |
| DB-ID |
FERMT3_000022 See all 3 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) |
0.00039 View details |
| Owner |
VKGL-NL_Rotterdam |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
VKGL-NL_Rotterdam |
| Date created |
2019-12-04 15:24:38 +01:00 (CET) |
| Date last edited |
2023-07-07 10:10:56 +02:00 (CEST) |

Variant on transcripts
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