Classification
Category 2
acceptor_site
CMH MAF
1 /
11983 samples
(0.00835%)
1 het.,
0 hom.
(100%)
1 /
23966 total alleles
(0.00417%)
Genes
gene: FANCA
synonym(s): FA, FA-H, FA1, FAA, FACA, FAH, FANCH, FANCA, ENSG00000187741
NM_000135.2
[intron]
Reportable
hgvs_c: NM_000135.2:c.523-1G>C
splice impact: acceptor_site
protein sequence:
NP_000126.2
NM_001018112.1
[intron]
hgvs_c: NM_001018112.1:c.523-1G>C
protein sequence:
NP_001018122.1
dbSNP
rs1477653630
gnomAD
gnomAD
Source: Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 16214 |
0% |
| America/Latino |
1 / 34556 |
0.00289% |
| Ashkenazi Jewish |
0 / 10066 |
0% |
| East Asian |
0 / 18388 |
0% |
| Finnish |
0 / 21648 |
0% |
| Non-Finnish |
0 / 113482 |
0% |
| Other |
0 / 6136 |
0% |
| South Asian |
0 / 30568 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14418 |
0% |
| Bulgarian |
0 / 2668 |
0% |
| Estonian |
0 / 240 |
0% |
| North-Western European |
0 / 42054 |
0% |
| Southern European |
0 / 11486 |
0% |
| Swedish |
0 / 26130 |
0% |
| Other non-Finnish European |
0 / 30904 |
0% |
| Total MAF |
1 / 251058 |
0.000398% |
Export Variant
Curation
Likely pathogenic