Variant #0000881831 (NC_000003.11:g.180688879dup, NC_000003.11(NM_005087.3):c.1603+733dup (FXR1))
Individual ID |
00419902 |
Chromosome |
3 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.180688879dup |
DNA change (hg38) |
g.180971091dup |
Published as |
XM_005247813.3:c.1707dupA (Pro570Thrfs*7) |
ISCN |
- |
DB-ID |
FXR1_000006 See all 3 reported entries |
Variant remarks |
- |
Reference |
PubMed: Mroczek 2022 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2022-10-24 22:26:15 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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