Variant #0000576405 (NC_000023.10:g.49105097G>A, NM_014008.3:c.1333G>A (CCDC22))

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.49105097G>A
DNA change (hg38) g.49248636G>A
Published as CCDC22(NM_014008.5):c.1333G>A (p.E445K)
ISCN -
DB-ID CCDC22_000033
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_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Date created 2019-07-18 18:22:55 +02:00 (CEST)
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     
CCDC22 NM_014008.3 ?/. - c.1333G>A r.(?) p.(Glu445Lys)
FOXP3 NM_014009.3 ?/. - c.*2698C>T r.(=) p.(=)


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