Variant #0000002480 (NC_000007.13:g.143047553A>G, CLCN1(NM_000083.2):c.2492A>G)

Individual ID 00002480
Chromosome 7
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.143047553A>G
Reference Li HF1, Chen WJ, Ni W, Wu ZY.(2014)
DB-ID CLCN1_000085 See all 2 reported entries
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 ./. 20 c.2492A>G r.(?) p.(Gln831Arg) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002480 ? ? CLCN1 1 Y Yang