Variant #0000369788 (NC_000016.9:g.1411872G>C, NC_000016.9(NM_032520.4):c.234-1G>C (GNPTG))
Individual ID |
00165089 |
Chromosome |
16 |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.1411872G>C |
DNA change (hg38) |
g.1361871G>C |
Published as |
- |
ISCN |
- |
DB-ID |
GNPTG_000041 |
Variant remarks |
- |
Reference |
Journal: Gao 2011 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Renata Voltolini Velho |
Database submission license |
No license selected |
Created by |
Renata Voltolini Velho |
Date created |
2018-06-21 15:50:10 +02:00 (CEST) |
Date last edited |
2019-01-28 16:05:20 +01:00 (CET) |

Variant on transcripts
Screenings
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