Classification
Category 3
CMH MAF
4 /
14969 samples
(0.0267%)
4 het.,
0 hom.
(100%)
4 /
29938 total alleles
(0.0134%)
Genes
gene: MPZ
synonym(s): CHM, CMT1, CMT1B, CMT2I, CMT2J, CMT4E, CMTDI3, CMTDID, DSS, HMSNIB, MPP, P0, MPZ, ENSG00000158887
NM_000530.6
[CDS]
Reportable
hgvs_c: NM_000530.6:c.428C>T
reference AA: T
variant AA: M
reference codon: aCg
variant codon: aTg
cDNA pos: 495
CDS pos: 428
translation impact: non_synonymous
protein sequence:
NP_000521.2
AA pos: 143
hgvs_p: NP_000521.2:p.Thr143Met
blosum: -1
SIFT: deleterious (0.03)
PolyPhen2: possibly_damaging (0.855)
dbSNP
rs750724650
TOPMED_MAF = 0.00003185524974515
ClinVar
531684
clinvar_significance = Uncertain_significance
clinvar_disease = Charcot-Marie-Tooth disease
clinvar_disease = Charcot-Marie-Tooth disease
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 10404 |
0% |
| America/Latino |
3 / 11578 |
0.0259% |
| East Asian |
0 / 8654 |
0% |
| Finnish |
0 / 6614 |
0% |
| Non-Finnish |
4 / 66736 |
0.00599% |
| Other |
0 / 908 |
0% |
| South Asian |
0 / 16512 |
0% |
| Total MAF |
7 / 121406 |
0.00577% |
gnomAD
gnomAD
Source: Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 16256 |
0% |
| America/Latino |
3 / 34592 |
0.00867% |
| Ashkenazi Jewish |
0 / 10080 |
0% |
| East Asian |
1 / 18394 |
0.00544% |
| Finnish |
0 / 21648 |
0% |
| Non-Finnish |
7 / 113766 |
0.00615% |
| Other |
0 / 6140 |
0% |
| South Asian |
0 / 30616 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
1 / 14424 |
0.00693% |
| Bulgarian |
0 / 2670 |
0% |
| Estonian |
0 / 242 |
0% |
| North-Western European |
3 / 42220 |
0.00711% |
| Southern European |
1 / 11504 |
0.00869% |
| Swedish |
3 / 26134 |
0.0115% |
| Other non-Finnish European |
0 / 30996 |
0% |
| Total MAF |
11 / 251492 |
0.00437% |
Export Variant