Variant #0000063236 (NC_000006.11:g.129381042G>A, NC_000006.11(NM_000426.3):c.396+1G>A (LAMA2))
Individual ID |
00036041 |
Chromosome |
6 |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.129381042G>A |
DNA change (hg38) |
g.129059897G>A |
Published as |
- |
ISCN |
- |
DB-ID |
LAMA2_000384 See all 2 reported entries |
Variant remarks |
segregation analysis confirmed second pathogenic variant c.8586T>G transmitted from the father |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Andreas Laner |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Julia Lopez |
Date created |
2015-04-02 13:01:39 +02:00 (CEST) |
Date last edited |
2020-06-22 13:32:38 +02:00 (CEST) |

Variant on transcripts
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