Variant #0000675829 (NC_000001.10:g.35227333C>T, NM_153212.2:c.478C>T (GJB4))
| Chromosome |
1 |
| 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.35227333C>T |
| DNA change (hg38) |
- |
| Published as |
GJB4(NM_153212.3):c.478C>T (p.R160C) |
| ISCN |
- |
| DB-ID |
GJB4_000021 |
| 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) |
7.0E-5 View details |
| Owner |
VKGL-NL_Groningen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
VKGL-NL_Groningen |
| Date created |
2020-08-06 14:59:34 +02:00 (CEST) |
| Date last edited |
2021-09-17 14:40:49 +02:00 (CEST) |

Variant on transcripts
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