Variant #0000714814 (NC_000016.9:g.47630364C>T, PHKB(NM_000293.2):c.1285C>T)
Individual ID |
00329066 |
Chromosome |
16 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.47630364C>T |
DNA change (hg38) |
g.47596453C>T |
Published as |
R429X |
ISCN |
- |
DB-ID |
PHKB_000026 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Davit-Spraul 2011 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
3.0E-5 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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