Variant #0000002857 (NC_000001.10:g.11896113C>G, CLCN6(NM_001286.3):c.1883C>G)

Individual ID 00002857
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.11896113C>G
Reference Poët et al. 2006 Pc Natl Acad Sci 103:13854-59
DB-ID CLCN6_000003
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
CLCN6 NM_001286.3 ./. 18 c.1883C>G r.(?) p.(Thr628Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002857 ? ? CLCN6 1 Y Yang