Variant #0000060728 (NC_000016.9:g.47630336T>A, PHKB(NM_000293.2):c.1257T>A)
Individual ID |
00033817 |
Chromosome |
16 |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.47630336T>A |
DNA change (hg38) |
g.47596425T>A |
Published as |
- |
ISCN |
- |
DB-ID |
PHKB_000003 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
rs121918021 |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
6.0E-5 View details |
Owner |
Shu Yau |
Database submission license |
No license selected |
Created by |
Shu Yau |

Variant on transcripts
Screenings
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