Classification
Category 5
polypyrimidine_tract
CMH MAF
25 /
9555 samples
(0.262%)
25 het.,
0 hom.
(100%)
25 /
19110 total alleles
(0.131%)
Genes
gene: DOCK7
synonym(s): ZIR2, DOCK7, ENSG00000116641
NM_001271999.1
[intron]
Reportable
hgvs_c: NM_001271999.1:c.1872-9dupT
splice impact: polypyrimidine_tract
protein sequence:
NP_001258928.1
NM_001272000.1
[intron]
hgvs_c: NM_001272000.1:c.1872-9dupT
protein sequence:
NP_001258929.1
NM_001272001.1
[intron]
hgvs_c: NM_001272001.1:c.1872-9dupT
protein sequence:
NP_001258930.1
NM_033407.3
[intron]
hgvs_c: NM_033407.3:c.1872-9dupT
protein sequence:
NP_212132.2
gene: TRNAN-GUU
synonym(s): TRNAN-GUU
TRNAN-GUU
[intron]
Reportable
gnomAD
gnomAD
Source: Genome
| Ethnicity |
Count / Number |
MAF |
| African |
91 / 3278 |
2.78% |
| America/Latino |
20 / 238 |
8.4% |
| Ashkenazi Jewish |
35 / 148 |
23.6% |
| East Asian |
8 / 708 |
1.13% |
| Finnish |
39 / 480 |
8.12% |
| Non-Finnish |
667 / 5832 |
11.4% |
| Other |
31 / 300 |
10.3% |
| Total MAF |
891 / 10984 |
8.11% |
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