Variant #0000477833 (NC_000023.10:g.48368337G>A, PORCN(NM_203475.1):c.129G>A)
Individual ID |
00233988 |
Chromosome |
X |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic (dominant) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.48368337G>A |
DNA change (hg38) |
g.48509949G>A |
Published as |
truncation, detected in blood |
ISCN |
- |
DB-ID |
PORCN_000099 See all 2 reported entries |
Variant remarks |
de novo, somatic mosaicism |
Reference |
PubMed: Yoshihashi 2010 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Somatic |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Raoul Hennekam |
Database submission license |
No license selected |
Created by |
Maria Paola Lombardi |
Date created |
2012-07-15 22:52:20 +02:00 (CEST) |
Date last edited |
2012-07-30 11:25:57 +02:00 (CEST) |

Variant on transcripts
Screenings
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