Variant #0000282065 (NC_000001.10:g.209799066G>A, LAMB3(NM_000228.2):c.1903C>T)
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.209799066G>A |
DNA change (hg38) |
g.209625721G>A |
Published as |
LAMB3(NM_000228.3):c.1903C>T (p.R635*), LAMB3(NM_001017402.1):c.1903C>T (p.R635*) |
ISCN |
- |
DB-ID |
LAMB3_000005 See all 5 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) |
0.00051 View details |
Owner |
VKGL-NL_Groningen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Groningen |
Date created |
2018-01-15 20:58:59 +01:00 (CET) |
Date last edited |
2023-07-07 10:10:56 +02:00 (CEST) |

Variant on transcripts
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