Classification
Category 3
five_prime_intronic
CMH MAF
27 /
13813 samples
(0.195%)
26 het.,
1 hom.
(96.3%)
28 /
27626 total alleles
(0.101%)
Genes
gene: CDH23
synonym(s): CDHR23, USH1D, CDH23, ENSG00000107736
NM_001171930.1
[intron]
hgvs_c: NM_001171930.1:c.832+8A>G
splice impact: five_prime_intronic
protein sequence:
NP_001165401.1
NM_001171931.1
[intron]
hgvs_c: NM_001171931.1:c.832+8A>G
protein sequence:
NP_001165402.1
NM_001171932.1
[intron]
hgvs_c: NM_001171932.1:c.832+8A>G
protein sequence:
NP_001165403.1
NM_022124.5
[intron]
Reportable
hgvs_c: NM_022124.5:c.832+8A>G
protein sequence:
NP_071407.4
NM_052836.3
[intron]
hgvs_c: NM_052836.3:c.832+8A>G
protein sequence:
NP_443068.1
dbSNP
rs56129333
TOPMED_MAF = 0.00035837155963302
ClinVar
506537
clinvar_significance = Likely_benign
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000478,0.000249,0.000404
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
1 / 4240 |
0.0236% |
| America/Latino |
0 / 2902 |
0% |
| East Asian |
0 / 2932 |
0% |
| Finnish |
0 / 2206 |
0% |
| Non-Finnish |
19 / 26110 |
0.0728% |
| Other |
0 / 380 |
0% |
| South Asian |
0 / 9104 |
0% |
| Total MAF |
20 / 47874 |
0.0418% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
7 / 20514 |
0.0341% |
| America/Latino |
0 / 30672 |
0% |
| Ashkenazi Jewish |
0 / 9588 |
0% |
| East Asian |
0 / 16368 |
0% |
| Finnish |
0 / 22168 |
0% |
| Non-Finnish |
72 / 106384 |
0.0677% |
| Other |
1 / 6438 |
0.0155% |
| South Asian |
0 / 25446 |
0% |
| Korean |
0 / 3336 |
0% |
| Japanese |
0 / 112 |
0% |
| Other East Asian |
0 / 11360 |
0% |
| Bulgarian |
0 / 2082 |
0% |
| Estonian |
0 / 4810 |
0% |
| North-Western European |
43 / 48314 |
0.089% |
| Southern European |
1 / 6796 |
0.0147% |
| Swedish |
4 / 16408 |
0.0244% |
| Other non-Finnish European |
24 / 27974 |
0.0858% |
| Total MAF |
80 / 237578 |
0.0337% |
Export Variant