Variant #0000639190 (NC_000002.11:g.55870312C>T, NM_033109.4:c.2050G>A (PNPT1))
Individual ID |
00282298 |
Chromosome |
2 |
Allele |
Parent #1 |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Probably affects function |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.55870312C>T |
DNA change (hg38) |
g.55643177C>T |
Published as |
- |
ISCN |
- |
DB-ID |
PNPT1_000034 |
Variant remarks |
- |
Reference |
MORL Deafness Variation Database |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
SUMMARY record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
Owner |
Global Variome, with Curator vacancy |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Julia Lopez |
Date created |
2020-02-05 13:36:16 +01:00 (CET) |
Date last edited |
2020-04-16 16:06:14 +02:00 (CEST) |

Variant on transcripts
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