Variant #0000169224 (NC_000023.10:g.47486641C>T, CFP(NM_002621.2):c.665G>A)
Individual ID |
00104012 |
Chromosome |
X |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.47486641C>T |
DNA change (hg38) |
g.47627242C>T |
Published as |
NM_002621.2(CFP):c.665G>A p.(Arg222His) |
ISCN |
- |
DB-ID |
CFP_000018 See all 2 reported entries |
Variant remarks |
variant could not be associated with disease phenotype |
Reference |
PubMed: Vogelaar 2017, Journal: Vogelaar 2017 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
6.0E-5 View details |
Owner |
Marjolijn JL Ligtenberg |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2017-04-28 08:15:46 +02:00 (CEST) |
Date last edited |
2018-09-30 10:37:01 +02:00 (CEST) |

Variant on transcripts
Screenings
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