Variant #0000002478 (NC_000007.13:g.143036397A>G, CLCN1(NM_000083.2):c.1453A>G)

Individual ID 00002478
Chromosome 7
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.143036397A>G
Reference Furby A1, Vicart S2, Camdessanché JP3, Fournier E4, Chabrier S5, Lagrue E6, Paricio C7, Blondy P8, Touraine R9, Sternberg D8, Fontaine B10.(2014)
DB-ID CLCN1_000084
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00039 View details
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 ./. 13 c.1453A>G r.(?) p.(Met485Val) 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     
0000002478 ? ? CLCN1 1 Y Yang