Variant #0000001349 (NC_000015.9:g.40702998T>C, IVD(NM_002225.3):c.465+2T>C)
Individual ID |
00000128 |
Chromosome |
15 |
Allele |
Both (homozygous) |
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.40702998T>C |
DNA change (hg38) |
g.40410799T>C |
Published as |
Exon 4 +2T>C |
ISCN |
- |
DB-ID |
IVD_000008 |
Variant remarks |
No IVD RNA found |
Reference |
PubMed: Vockley et al (2000) |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
Owner |
Ivo F.A.C. Fokkema |
Database submission license |
Creative Commons Attribution-ShareAlike 4.0 International |
Created by |
Ivo F.A.C. Fokkema |
Date created |
2012-06-16 09:49:02 +02:00 (CEST) |
Date last edited |
2012-11-27 22:32:47 +01:00 (CET) |

Variant on transcripts
Screenings
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