Variant #0000371839 (NC_000014.8:g.35180166T>C, NM_138638.4:c.*1905A>G (CFL2))

Chromosome 14
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.35180166T>C
DNA change (hg38) g.34710960T>C
Published as -
ISCN -
DB-ID CFL2_000008
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs41528946
Origin Germline
Segregation -
Frequency 0.00-0.25
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00649 View details
Owner Ivo F.A.C. Fokkema
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Ivo F.A.C. Fokkema
Date created 2009-10-17 20:05:27 +02:00 (CEST)
Date last edited 2012-11-02 20:40:42 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CFL2 NM_138638.4 ?/. 4 c.*1905A>G r.(?) p.(=)


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