Variant #0000282119 (NC_000004.11:g.113565890_113565892del, C4orf21(NM_018392.4):c.-7949_-7947del)

Chromosome 4
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.113565890_113565892del
DNA change (hg38) g.112644734_112644736del
Published as LARP7(NM_001267039.4):c.65_67delAAG (p.E22del)
ISCN -
DB-ID LARP7_000003 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_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LARP7 NM_016648.2 -?/. - c.65_67del r.(?) p.(Glu22del)
C4orf21 NM_018392.4 -?/. - c.-7949_-7947del r.(?) p.(=)