Classification
Category 3
in_frame_indel
CMH MAF
7 /
13144 samples
(0.0533%)
7 het.,
0 hom.
(100%)
7 /
26288 total alleles
(0.0266%)
Genes
gene: PCDH15
synonym(s): CDHR15, DFNB23, USH1F, PCDH15, ENSG00000150275
NM_001142769.1
[CDS]
hgvs_c: NM_001142769.1:c.4715_4741del
cDNA pos: 5110
CDS pos: 4715
translation impact: in_frame_indel
protein sequence:
NP_001136241.1
AA pos: 1572
hgvs_p: NP_001136241.1:p.Gly1572_Glu1371del
NM_001142770.1
[3_utr]
hgvs_c: NM_001142770.1:c.*130_*156del
cDNA pos: 5145
protein sequence:
NP_001136242.1
NM_001142771.1
[intron]
hgvs_c: NM_001142771.1:c.4497+1206_4497+1232del
protein sequence:
NP_001136243.1
NM_001142772.1
[intron]
hgvs_c: NM_001142772.1:c.4482+1206_4482+1232del
protein sequence:
NP_001136244.1
dbSNP
rs779862544
TOPMED_MAF = 0.00015927624872579
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000698,0.000294,0.000568
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
1 / 24142 |
0.00414% |
| America/Latino |
1 / 35330 |
0.00283% |
| Ashkenazi Jewish |
0 / 10324 |
0% |
| East Asian |
0 / 19534 |
0% |
| Finnish |
1 / 25018 |
0.004% |
| Non-Finnish |
31 / 127936 |
0.0242% |
| Other |
0 / 7130 |
0% |
| South Asian |
0 / 30598 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 134 |
0% |
| Other East Asian |
0 / 14022 |
0% |
| Bulgarian |
0 / 2664 |
0% |
| Estonian |
0 / 4834 |
0% |
| North-Western European |
12 / 50380 |
0.0238% |
| Southern European |
3 / 11480 |
0.0261% |
| Swedish |
13 / 25874 |
0.0502% |
| Other non-Finnish European |
3 / 32704 |
0.00917% |
| Total MAF |
34 / 280012 |
0.0121% |
Export Variant