Variant #0000001347 (NC_000015.9:g.40699841G>C, IVD(NM_002225.3):c.158G>C)
Individual ID |
00000127 |
Chromosome |
15 |
Allele |
Parent #1 |
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.40699841G>C |
DNA change (hg38) |
g.40407640G>C |
Published as |
c.149G>C;p.Arg21Pro |
ISCN |
- |
DB-ID |
IVD_000006 See all 2 reported entries |
Variant remarks |
- |
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 09:20:56 +02:00 (CEST) |
Date last edited |
2012-11-27 22:31:56 +01:00 (CET) |

Variant on transcripts
Screenings
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