Variant #0000675140 (NC_000004.11:g.113568938_113568941del, LARP7(NM_016648.2):c.1091_1094del)
Individual ID |
00307105 |
Chromosome |
4 |
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.113568938_113568941del |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
LARP7_000007 See all 2 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
Owner |
IMGAG |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
IMGAG |
Date created |
2020-07-31 11:24:01 +02:00 (CEST) |
Date last edited |
2020-08-04 08:34:41 +02:00 (CEST) |

Variant on transcripts
Screenings
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