Variant #0000398570 (NC_000016.9:g.47694729A>G, PHKB(NM_000293.2):c.2195A>G)
Individual ID |
00174819 |
Chromosome |
16 |
Allele |
Parent #2 |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.47694729A>G |
DNA change (hg38) |
g.47660818A>G |
Published as |
- |
ISCN |
- |
DB-ID |
PHKB_000010 |
Variant remarks |
ACMG grading: PP3; additional variants in MYF6, POMT1, MYH2 |
Reference |
PubMed: Fichna 2018 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00036 View details |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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