Variant #0000817810 (NC_000004.11:g.113575316G>C, LARP7(NM_016648.2):c.1689+1G>C)
Individual ID |
00387786 |
Chromosome |
4 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.113575316G>C |
DNA change (hg38) |
g.112654160G>C |
Published as |
NM_001267039:c.1689+1G>C |
ISCN |
- |
DB-ID |
LARP7_000015 |
Variant remarks |
- |
Reference |
PubMed: Hu 2019 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2021-10-31 12:02:46 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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