Variant #0000880883 (NC_000006.11:g.80626375T>C, NM_022726.3:c.895A>G (ELOVL4))
Individual ID |
00419222 |
Chromosome |
6 |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.80626375T>C |
DNA change (hg38) |
g.79916658T>C |
Published as |
ELOVL4 c.895A>G, M299V |
ISCN |
- |
DB-ID |
ELOVL4_000025 See all 5 reported entries |
Variant remarks |
heterozygous and homozygous |
Reference |
PubMed: Bardak 2016 |
ClinVar ID |
- |
dbSNP ID |
rs3812153 |
Origin |
Unknown |
Segregation |
? |
Frequency |
minor allele frequency (1000 Genomes Project): 0.2416 |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.16629 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2022-10-19 11:08:16 +02:00 (CEST) |
Date last edited |
2022-10-19 11:09:30 +02:00 (CEST) |

Variant on transcripts
Screenings
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