Variant #0000521214 (NC_000004.11:g.113568550_113568560del, C4orf21(NM_018392.4):c.-10618_-10608del)

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.113568550_113568560del
DNA change (hg38) g.112647394_112647404del
Published as LARP7(NM_001267039.1):c.863_873delGAGTTGAAGCA (p.R288Ifs*2)
ISCN -
DB-ID C4orf21_000007
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LARP7 NM_016648.2 ?/. - c.842_852del r.(?) p.(Arg281IlefsTer2)
C4orf21 NM_018392.4 ?/. - c.-10618_-10608del r.(?) p.(=)