Classification
Category 5
curation
CMH MAF
22 /
14969 samples
(0.147%)
22 het.,
0 hom.
(100%)
22 /
29938 total alleles
(0.0735%)
Genes
gene: TRNAN-GUU
synonym(s): TRNAN-GUU
TRNAN-GUU
[intron]
Reportable
gene: ALPL
synonym(s): AP-TNAP, APTNAP, HOPS, TNAP, TNSALP, ALPL, ENSG00000162551
ENST00000374840.3
[CDS]
Reportable
hgvs_c: ENST00000374840.3:c.1574del
reference AA: *
variant AA: X
reference codon: tGa
variant codon: ta
cDNA pos: 1824
CDS pos: 1574
translation impact: premature_stop
protein sequence:
ENSP00000363973.3
AA pos: 525
hgvs_p: ENSP00000363973.3:p.Ter525=
blosum: -4
ENST00000539907.1
[CDS]
hgvs_c: ENST00000539907.1:c.1343del
reference AA: *
variant AA: X
reference codon: tGa
variant codon: ta
cDNA pos: 1550
CDS pos: 1343
translation impact: premature_stop
protein sequence:
ENSP00000437674.1
AA pos: 448
hgvs_p: ENSP00000437674.1:p.Ter448=
blosum: -4
ENST00000540617.1
[CDS]
hgvs_c: ENST00000540617.1:c.1409del
reference AA: *
variant AA: X
reference codon: tGa
variant codon: ta
cDNA pos: 1666
CDS pos: 1409
translation impact: premature_stop
protein sequence:
ENSP00000442672.1
AA pos: 470
hgvs_p: ENSP00000442672.1:p.Ter470=
blosum: -4
dbSNP
rs764994176
TOPMED_MAF = 0.00037429918450560
ClinVar
555631
clinvar_significance = Uncertain_significance
clinvar_disease = Infantile hypophosphatasia
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000618,0.000241,0.000490
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
1 / 6046 |
0.0165% |
| America/Latino |
9 / 8988 |
0.1% |
| East Asian |
0 / 6378 |
0% |
| Finnish |
0 / 4244 |
0% |
| Non-Finnish |
24 / 47192 |
0.0509% |
| Other |
0 / 638 |
0% |
| South Asian |
0 / 13630 |
0% |
| Total MAF |
34 / 87116 |
0.039% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
1 / 22476 |
0.00445% |
| America/Latino |
18 / 34714 |
0.0519% |
| Ashkenazi Jewish |
0 / 9996 |
0% |
| East Asian |
0 / 18978 |
0% |
| Finnish |
0 / 15188 |
0% |
| Non-Finnish |
59 / 120848 |
0.0488% |
| Other |
3 / 6866 |
0.0437% |
| South Asian |
0 / 29688 |
0% |
| Korean |
0 / 3690 |
0% |
| Japanese |
0 / 70 |
0% |
| Other East Asian |
0 / 13658 |
0% |
| Bulgarian |
0 / 1822 |
0% |
| Estonian |
0 / 4784 |
0% |
| North-Western European |
27 / 48652 |
0.0555% |
| Southern European |
10 / 10958 |
0.0913% |
| Swedish |
4 / 24470 |
0.0163% |
| Other non-Finnish European |
18 / 30162 |
0.0597% |
| Total MAF |
81 / 258754 |
0.0313% |
curated_classification = 5
Export Variant