Variant #0000149631 (NC_000002.11:g.228131704T>A, NC_000002.11(NM_000091.4):c.1409-5T>A (COL4A3))
Individual ID |
00091358 |
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Probably affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.228131704T>A |
DNA change (hg38) |
g.227266988T>A |
Published as |
- |
ISCN |
- |
DB-ID |
COL4A3_000032 See all 2 reported entries |
Variant remarks |
intronic/ splice site; homozygous |
Reference |
PubMed: Rana 2007 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Judy Savige |
Database submission license |
No license selected |
Created by |
Judy Savige |
Date created |
2011-01-05 13:35:21 +01:00 (CET) |
Date last edited |
2020-06-11 17:55:19 +02:00 (CEST) |

Variant on transcripts
Screenings
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