Variant #0000169224 (NC_000023.10:g.47486641C>T, CFP(NM_002621.2):c.665G>A)

Individual ID 00104012
Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.47486641C>T
DNA change (hg38) g.47627242C>T
Published as NM_002621.2(CFP):c.665G>A p.(Arg222His)
ISCN -
DB-ID CFP_000018 See all 2 reported entries
Variant remarks variant could not be associated with disease phenotype
Reference PubMed: Vogelaar 2017, Journal: Vogelaar 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-5 View details
Owner Marjolijn JL Ligtenberg
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2017-04-28 08:15:46 +02:00 (CEST)
Date last edited 2018-09-30 10:37:01 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CFP NM_002621.2 ./. - c.665G>A r.(?) p.(Arg222His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000104483 DNA SEQ-NG - - - 2 Marjolijn JL Ligtenberg