Variant #0000810477 (NC_000023.10:g.49104709C>T, NM_014008.3:c.1150C>T (CCDC22))

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.49104709C>T
DNA change (hg38) -
Published as CCDC22(NM_014008.3):c.1150C>T (p.(Arg384Cys)), CCDC22(NM_014008.4):c.1150C>T (p.R384C), CCDC22(NM_014008.5):c.1150C>T (p.R384C)
ISCN -
DB-ID CCDC22_000019 See all 4 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) 0.00295 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2021-09-17 14:40:49 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CCDC22 NM_014008.3 -/. - c.1150C>T r.(?) p.(Arg384Cys)
FOXP3 NM_014009.3 -/. - c.*3086G>A r.(=) p.(=)


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