Variant #0000811211 (NC_000020.10:g.10393326del, MKKS(NM_170784.2):c.837del)
Individual ID |
00383287 |
Chromosome |
20 |
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.10393326del |
DNA change (hg38) |
- |
Published as |
c.837delA (p.Gly280GlufsX4) |
ISCN |
- |
DB-ID |
MKKS_000101 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Duelund Hjortshoj-2010 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Julia Lopez |

Variant on transcripts
Screenings
|
|