Variant #0000655876 (NC_000007.13:g.73455584G>A, NC_000007.13(NM_000501.2):c.232+3G>A (ELN))
Chromosome |
7 |
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.73455584G>A |
DNA change (hg38) |
g.74041254G>A |
Published as |
ELN(NM_000501.4):c.232+3G>A, ELN(NM_001278939.1):c.232+3G>A |
ISCN |
- |
DB-ID |
ELN_000014 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) |
0.00018 View details |
Owner |
VKGL-NL_Rotterdam |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Rotterdam |
Date created |
2020-03-23 16:13:27 +01:00 (CET) |
Date last edited |
2023-01-11 15:44:22 +01:00 (CET) |

Variant on transcripts
|