Variant #0000330076 (NC_000004.11:g.113568627G>A, C4orf21(NM_018392.4):c.-10687C>T)

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.113568627G>A
DNA change (hg38) g.112647471G>A
Published as LARP7(NM_001267039.1):c.940G>A (p.(Ala314Thr))
ISCN -
DB-ID LARP7_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) 0 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2022-11-01 13:01:21 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LARP7 NM_016648.2 ?/. - c.919G>A r.(?) p.(Ala307Thr)
C4orf21 NM_018392.4 ?/. - c.-10687C>T r.(?) p.(=)