Variant #0000002417 (NC_000007.13:g.143029837C>G, CLCN1(NM_000083.2):c.1272C>G)

Individual ID 00002417
Chromosome 7
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.143029837C>G
Reference Brugnoni R1, Galantini S, Confalonieri P, Balestrini MR, Cornelio F, Mantegazza R.(1999)
DB-ID CLCN1_000037
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 ./. 12 c.1272C>G r.(?) p.(Ile424Met) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002417 ? ? CLCN1 1 Y Yang