Variant #0000001299 (NC_000009.11:g.124073016C>A, GSN(NM_000177.4):c.559C>A)

Individual ID 00001299
Chromosome 9
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.124073016C>A
Reference Sunada Y1, Nakase H, Shimizu T, Mannen T, Kanazawa I.(1992)
DB-ID GSN_000001
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     
GSN NM_000177.4 ./. 4 c.559C>A r.(?) p.(Gln187Lys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001299 ? ? GSN 1 Y Yang