Variant #0000002389 (NC_000007.13:g.143027881C>G, CLCN1(NM_000083.2):c.870C>G)

Individual ID 00002389
Chromosome 7
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.143027881C>G
Reference Lehmann-Horn F1, Mail?nder V, Heine R, George AL.(1995)
DB-ID CLCN1_000009
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     
CLCN1 NM_000083.2 ./. 8 c.870C>G r.(?) p.(Ile290Met) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002389 ? ? CLCN1 1 Y Yang