Variant #0000001010 (NC_000010.10:g.135237049_135237050insC, SPRN(NM_001012508.3):c.136_137insG)

Individual ID 00001010
Chromosome 10
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.135237049_135237050insC
Reference Beck JA1, Campbell TA, Adamson G, Poulter M, Uphill JB, Molou E, Collinge J, Mead S.(2008)
DB-ID SPRN_000003
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     
SPRN NM_001012508.3 ./. 2 c.136_137insG r.(?) p.(Ala46Glyfs*249) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001010 ? ? SPRN 1 Y Yang