Variant #0000074052 (NC_000013.10:g.31843328del, B3GLCT(NM_194318.3):c.597-23del)
Individual ID |
00046408 |
Chromosome |
13 |
Allele |
Unknown |
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.31843328del |
DNA change (hg38) |
g.31269191del |
Published as |
- |
ISCN |
- |
DB-ID |
B3GLCT_000014 See all 2 reported entries |
Variant remarks |
rs35261337 |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
rs3215787 |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (large NGS studies) |
Variant not found in online data sets |
Owner |
Johan den Dunnen |

Variant on transcripts
Screenings
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