Classification
Category 2
frameshift
CMH MAF
1 /
13144 samples
(0.00761%)
1 het.,
0 hom.
(100%)
1 /
26288 total alleles
(0.0038%)
Genes
gene: KIF7
synonym(s): ACLS, HLS2, JBTS12, UNQ340, KIF7, ENSG00000166813
NM_198525.2
[CDS]
Reportable
hgvs_c: NM_198525.2:c.3778dupC
reference AA: R
variant AA: PX
reference codon: cgc
variant codon: cCgc
cDNA pos: 3855
CDS pos: 3778
translation impact: frameshift
protein sequence:
NP_940927.2
AA pos: 1260
hgvs_p: NP_940927.2:p.Arg1260ProfsTer26
blosum: -2
dbSNP
rs777426943
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 23866 |
0% |
| America/Latino |
0 / 35390 |
0% |
| Ashkenazi Jewish |
0 / 10248 |
0% |
| East Asian |
1 / 19870 |
0.00503% |
| Finnish |
0 / 25046 |
0% |
| Non-Finnish |
4 / 126260 |
0.00317% |
| Other |
0 / 7126 |
0% |
| South Asian |
2 / 30614 |
0.00653% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 148 |
0% |
| Other East Asian |
1 / 14350 |
0.00697% |
| Bulgarian |
0 / 2538 |
0% |
| Estonian |
0 / 4746 |
0% |
| North-Western European |
1 / 49510 |
0.00202% |
| Southern European |
0 / 11478 |
0% |
| Swedish |
1 / 25886 |
0.00386% |
| Other non-Finnish European |
2 / 32102 |
0.00623% |
| Total MAF |
7 / 278420 |
0.00251% |
Export Variant
Curation
Likely pathogenic