Variant #0000052739 (NC_000023.10:g.153640406C>T, TAZ(NM_000116.3):c.110-17C>T)
Individual ID |
00029319 |
Chromosome |
X |
Allele |
Parent #1 |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.153640406C>T |
DNA change (hg38) |
g.154412069= |
Published as |
- |
ISCN |
- |
DB-ID |
TAZ_000021 See all 6 reported entries |
Variant remarks |
- |
Reference |
DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) |
ClinVar ID |
- |
dbSNP ID |
rs62617809 |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.17272 View details |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2015-01-20 16:49:30 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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