Variant #0000393348 (NC_000023.10:g.153219956C>T, HCFC1(NM_005334.2):c.3894G>A)
Individual ID |
00172608 |
Chromosome |
X |
Allele |
Parent #1 |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.153219956C>T |
DNA change (hg38) |
g.153954505C>T |
Published as |
A1298A |
ISCN |
- |
DB-ID |
HCFC1_000039 |
Variant remarks |
recurrent, found 29 times |
Reference |
PubMed: Tarpey 2009 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
29/208 cases |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Lucy Raymond |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2009-10-28 15:09:48 +01:00 (CET) |
Date last edited |
2018-07-27 13:04:54 +02:00 (CEST) |

Variant on transcripts
Screenings
|
|