Variant #0000521213 (NC_000004.11:g.113568423_113568425del, C4orf21(NM_018392.4):c.-10480_-10478del)

Chromosome 4
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.113568423_113568425del
DNA change (hg38) g.112647267_112647269del
Published as LARP7(NM_001267039.1):c.731_733del (p.(Glu246del)), LARP7(NM_001267039.1):c.736_738delGAA (p.E246del)
ISCN -
DB-ID C4orf21_000006 See all 2 reported entries
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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LARP7 NM_016648.2 ?/. - c.715_717del r.(?) p.(Glu239del)
C4orf21 NM_018392.4 ?/. - c.-10480_-10478del r.(?) p.(=)