Variant #0000079618 (NC_000023.10:g.153565841_154722429dup, G6PD(NM_000402.3):c.-148_*609[2])
Individual ID |
00050693 |
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.153565841_154722429dup |
DNA change (hg38) |
g.154337626_155494214dup |
Published as |
- |
ISCN |
- |
DB-ID |
DKC1_000000 |
Variant remarks |
increased gene dosage |
Reference |
PubMed: DDDS 2015, Journal: DDDS 2015 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Johan den Dunnen |

Variant on transcripts
Screenings
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