Variant #0000873740 (NC_000008.10:g.141449258T>G, NM_001160372.1:c.623A>C (TRAPPC9))
Individual ID |
00414555 |
Chromosome |
8 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
likely pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.141449258T>G |
DNA change (hg38) |
g.140439159T>G |
Published as |
NM_031466.8:c.623A>C |
ISCN |
- |
DB-ID |
TRAPPC9_000073 |
Variant remarks |
- |
Reference |
PubMed: Uctepe 2023 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Eyyup Uctepe |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
N/A |
Date created |
2022-07-29 11:25:06 +02:00 (CEST) |
Date last edited |
2025-01-23 12:29:47 +01:00 (CET) |

Variant on transcripts
Screenings
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