Variant #0000828551 (NC_000003.11:g.97483365_113953480del, IMPG2(NM_016247.3):c.?)
Individual ID |
00395614 |
Chromosome |
3 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.97483365_113953480del |
DNA change (hg38) |
g.97764521_114234636del |
Published as |
chr3, g.97483365_113953480del, arr([GRCh37] 3q11.2q13.31(97483365_113953480)x1), heterozygous |
ISCN |
- |
DB-ID |
IMPG2_000140 See all 3 reported entries |
Variant remarks |
no gene indicated in publication! |
Reference |
PubMed: Perea-Romero 2021 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |

Variant on transcripts
Screenings
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