Variant #0000900033 (NC_000017.10:g.56294098C>T, NC_000017.10(NM_017777.3):c.191-1G>A (MKS1))
Individual ID |
00422682 |
Chromosome |
17 |
Allele |
Paternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.56294098C>T |
DNA change (hg38) |
g.58216737C>T |
Published as |
MKS1 c.191-1G>A, p.(S64Mfs*12) |
ISCN |
- |
DB-ID |
MKS1_000129 |
Variant remarks |
heterozygous, confirmed on mRNA level |
Reference |
PubMed: Luo 2020 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2022-11-10 20:54:11 +01:00 (CET) |
Date last edited |
2022-11-10 20:54:50 +01:00 (CET) |

Variant on transcripts
Screenings
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