Variant #0001043362 (NC_000020.10:g.44054459del, NM_015937.5:c.1730del (PIGT))
Chromosome |
20 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.44054459del |
DNA change (hg38) |
- |
Published as |
PIGT(NM_015937.6):c.1730del (p.(Pro577Hisfs*67)) |
ISCN |
- |
DB-ID |
PIGT_000067 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
VKGL-NL_Leiden |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Leiden |
Date created |
2025-05-05 21:14:00 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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