Variant #0000404128 (NC_000005.9:g.36953718A>G, NC_000005.9(NM_133433.3):c.-79-2A>G (NIPBL))
Individual ID |
00179715 |
Chromosome |
5 |
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.36953718A>G |
DNA change (hg38) |
g.36953616A>G |
Published as |
1-81A>G |
ISCN |
- |
DB-ID |
NIPBL_000148 |
Variant remarks |
- |
Reference |
PubMed: Selicorni 2007 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Cristina Dias |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Jorge Oliveira |
Date created |
2009-04-13 18:43:06 +02:00 (CEST) |
Date last edited |
2020-06-17 10:01:03 +02:00 (CEST) |

Variant on transcripts
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