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 InternationalCreative Commons License
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)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ELOVL4 NM_022726.3 -?/. - c.895A>G r.(?) p.(Met299Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000420526 DNA SEQ-NG-I;SEQ blood targeted next generation sequencing ELOVL4 1 LOVD


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