Variant #0000859890 (NC_000005.9:g.177036001G>A, NM_007255.2:c.814G>A (B4GALT7))
Chromosome |
5 |
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.177036001G>A |
DNA change (hg38) |
- |
Published as |
B4GALT7(NM_007255.2):c.814G>A (p.A272T, p.(Ala272Thr)), B4GALT7(NM_007255.3):c.814G>A (p.A272T) |
ISCN |
- |
DB-ID |
B4GALT7_000044 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) |
0.00057 View details |
Owner |
VKGL-NL_Rotterdam |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Rotterdam |
Date created |
2022-05-09 15:51:19 +02:00 (CEST) |
Date last edited |
2023-01-11 15:44:22 +01:00 (CET) |

Variant on transcripts
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