Variant #0000336309 (NC_000023.10:g.154507272G>A, CLIC2(NM_001289.4):c.664C>T)

Chromosome X
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.154507272G>A
DNA change (hg38) g.155277983G>A
Published as CLIC2(NM_001289.4):c.664C>T (p.(Arg222Cys)), CLIC2(NM_001289.5):c.664C>T (p.R222C)
ISCN -
DB-ID CLIC2_000001 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 0
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CLIC2 NM_001289.4 ?/. - c.664C>T r.(?) p.(Arg222Cys)