Variant #0000872572 (NC_000017.10:g.26879407T>A, NM_005148.3:c.169A>T (UNC119))
Individual ID |
00413581 |
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.26879407T>A |
DNA change (hg38) |
g.28552389T>A |
Published as |
HRG4 A-to-T transition in codon 57, changing a lysine to a premature termination codon |
ISCN |
- |
DB-ID |
PIGS_000006 See all 2 reported entries |
Variant remarks |
heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases |
Reference |
PubMed: Kobayashi 2000 |
ClinVar ID |
- |
dbSNP ID |
rs267607166 |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
9.0E-5 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2022-07-19 14:18:03 +02:00 (CEST) |
Date last edited |
2022-07-19 14:18:16 +02:00 (CEST) |

Variant on transcripts
Screenings
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|