Variant #0000393271 (NC_000023.10:g.40539136A>G, MED14(NM_004229.3):c.2860T>C)
Individual ID |
00172531 |
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.40539136A>G |
DNA change (hg38) |
g.40679884A>G |
Published as |
Y954H |
ISCN |
- |
DB-ID |
MED14_000021 |
Variant remarks |
recurrent, found 2 times |
Reference |
PubMed: Tarpey 2009 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
2/208 cases |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00111 View details |
Owner |
Lucy Raymond |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2009-11-10 15:10:19 +01:00 (CET) |
Date last edited |
2018-07-27 13:06:00 +02:00 (CEST) |

Variant on transcripts
Screenings
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