Variant #0001025310 (NC_000007.13:g.123302052G>C, NM_207163.1:c.412G>C (LMOD2))
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.123302052G>C |
DNA change (hg38) |
- |
Published as |
LMOD2(NM_207163.3):c.412G>C (p.E138Q) |
ISCN |
- |
DB-ID |
LMOD2_000001 |
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) |
0.00035 View details |
Owner |
VKGL-NL_Utrecht |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Utrecht |
Date created |
2025-02-07 18:57:27 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
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