Variant #0000067171 (NC_000010.10:g.95355617G>A, NC_000010.10(NM_006744.3):c.356-1825C>T (RBP4))
| Individual ID |
00038828, 00038897, 00038919, 00038923, 00038931, 00038935, 00038940, 00038942, 00038972, 00038975, 00038977, 00039003, 00039007, 00039011, 00039014, 00039015, 00039020, 00039063, 00039067, 00039097, 00039099, 00039100, 00039103, 00039120, 00039170, 00039178, 00039179, 00039182, 00039192, 00039196, 00039197, 00039198, 00039208, 00039242, 00039251, 00039253, 00039265, 00039266, 00039269, 00039311, 00039322, 00039330, 00039331 |
| Chromosome |
10 |
| Allele |
Both (homozygous) |
| Affects function (as reported) |
Effect unknown |
| Affects function (by curator) |
Effect unknown |
| Classification method |
- |
| Clinical classification |
VUS |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.95355617G>A |
| DNA change (hg38) |
g.93595860G>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
RBP4_000003 See all 2 reported entries |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
rs7094671 |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Carolina Lemos |
| Database submission license |
No license selected |
| Created by |
Carolina Lemos |
| Date created |
2015-06-11 18:52:46 +02:00 (CEST) |
| Date last edited |
2022-10-11 13:40:23 +02:00 (CEST) |

Variant on transcripts
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