Variant #0000780178 (NC_000011.9:g.67135092A>G, CLCF1(NM_013246.2):c.22T>C)

Individual ID 00371664
Chromosome 11
Allele Both (homozygous)
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.67135092A>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID CLCF1_000002
Variant remarks -
Reference PubMed: Melo 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CLCF1 NM_013246.2 ?/. - c.22T>C r.(?) p.(Ser8Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000372892 DNA;RNA RT-PCR;SEQ;SEQ-NG - WES, WGS KLC2 4 Johan den Dunnen