Classification
Category 3
five_prime_flank
CMH MAF
44 /
6955 samples
(0.633%)
43 het.,
1 hom.
(97.7%)
45 /
13910 total alleles
(0.324%)
Genes
gene: AMPD2
synonym(s): AMPD2, ENSG00000116337
NM_001257360.1
[intron]
Reportable
hgvs_c: NM_001257360.1:c.1569+3A>G
splice impact: five_prime_flank
protein sequence:
NP_001244289.1
NM_001257361.1
[intron]
hgvs_c: NM_001257361.1:c.1215+3A>G
protein sequence:
NP_001244290.1
NM_004037.7
[intron]
hgvs_c: NM_004037.7:c.1569+3A>G
protein sequence:
NP_004028.3
NM_139156.3
[intron]
hgvs_c: NM_139156.3:c.1326+3A>G
protein sequence:
NP_631895.1
NM_203404.1
[intron]
hgvs_c: NM_203404.1:c.1212+3A>G
protein sequence:
NP_981949.1
gene: TRNAN-GUU
synonym(s): TRNAN-GUU
TRNAN-GUU
[intron]
Reportable
dbSNP
rs41280332
GMAF = 0.001797
TOPMED_MAF = 0.00282715341488277
ClinVar
434144
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = Spastic paraplegia 63
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.003605,0.000681,0.002614
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
4 / 10124 |
0.0395% |
| America/Latino |
14 / 11574 |
0.121% |
| East Asian |
0 / 8630 |
0% |
| Finnish |
24 / 6614 |
0.363% |
| Non-Finnish |
241 / 66458 |
0.363% |
| Other |
9 / 908 |
0.991% |
| South Asian |
19 / 16482 |
0.115% |
| Total MAF |
311 / 120790 |
0.257% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
13 / 24004 |
0.0542% |
| America/Latino |
63 / 34416 |
0.183% |
| Ashkenazi Jewish |
2 / 10146 |
0.0197% |
| East Asian |
0 / 18864 |
0% |
| Finnish |
107 / 24198 |
0.442% |
| Non-Finnish |
552 / 126584 |
0.436% |
| Other |
21 / 6440 |
0.326% |
| South Asian |
30 / 30782 |
0.0975% |
| Total MAF |
788 / 275434 |
0.286% |
Export Variant