Variant #0000608149 (NC_000002.11:g.88926749_88926754dup, NM_004836.5:c.58_63dup (EIF2AK3))

Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.88926749_88926754dup
DNA change (hg38) g.88627231_88627236dup
Published as EIF2AK3(NM_004836.6):c.52_57dupCTGCTG (p.L20_L21dup), EIF2AK3(NM_004836.6):c.58_63dupCTGCTG (p.L20_L21dup)
ISCN -
DB-ID EIF2AK3_000038
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-12-04 14:54:23 +01:00 (CET)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EIF2AK3 NM_004836.5 ?/. - c.58_63dup r.(?) p.(Leu20_Leu21dup)


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