Variant #0000257145 (NC_000002.11:g.44071639C>T, ABCG8(NM_022437.2):c.64-7C>T)
Chromosome |
2 |
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.44071639C>T |
DNA change (hg38) |
g.43844500C>T |
Published as |
ABCG8(NM_022437.3):c.64-7C>T |
ISCN |
- |
DB-ID |
ABCG8_000005 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) |
0.44497 View details |
Owner |
VKGL-NL_AMC |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_AMC |

Variant on transcripts
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