Variant #0000184195 (NC_000023.10:g.148585704G>A, IDS(NM_000202.5):c.223C>T)
Individual ID |
00114371 |
Chromosome |
X |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.148585704G>A |
DNA change (hg38) |
g.149504174G>A |
Published as |
- |
ISCN |
- |
DB-ID |
IDS_000159 |
Variant remarks |
- |
Reference |
PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Miguel Angel Alcántara-Ortigoza |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Miguel Angel Alcántara-Ortigoza |

Variant on transcripts
Screenings
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