Variant #0000130110 (NC_000009.11:g.35077267_35077273del, FANCG(NM_004629.1):c.637_643del)
Individual ID |
00080912 |
Chromosome |
9 |
Allele |
Both (homozygous) |
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.35077267_35077273del |
DNA change (hg38) |
g.35077270_35077276del |
Published as |
- |
ISCN |
- |
DB-ID |
FANCG_000037 See all 14 reported entries |
Variant remarks |
- |
Reference |
Trujillano et al., submitted |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
VKGL-NL |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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