Variant #0000002391 (NC_000007.13:g.143027961G>A, CLCN1(NM_000083.2):c.950G>A)

Individual ID 00002391
Chromosome 7
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.143027961G>A
Reference Meyer-Kleine C1, Steinmeyer K, Ricker K, Jentsch TJ, Koch MC.(1995)
DB-ID CLCN1_000011
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
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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.950G>A r.(?) p.(Arg317Gln) 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     
0000002391 ? ? CLCN1 1 Y Yang