Variant #0000521218 (NC_000004.11:g.113570721T>A, C4orf21(NM_018392.4):c.-12781A>T)

Chromosome 4
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.113570721T>A
DNA change (hg38) g.112649565T>A
Published as -
ISCN -
DB-ID C4orf21_000011
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_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2022-11-01 13:01:21 +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.1173T>A r.(?) p.(Tyr391Ter)
C4orf21 NM_018392.4 +/. - c.-12781A>T r.(?) p.(=)