Variant #0000001011 (NC_000010.10:g.135236936_135236947dup, SPRN(NM_001012508.3):c.239_250dup)

Individual ID 00001011
Chromosome 10
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.135236936_135236947dup
Reference Beck JA1, Campbell TA, Adamson G, Poulter M, Uphill JB, Molou E, Collinge J, Mead S.(2008)
DB-ID SPRN_000004
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
Options




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.239_250dup r.(?) p.(Leu83_Gly86dup) VariO:0142 DNA insertion VariO:0020 sequence retaining amino acid insertion



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001011 ? ? SPRN 1 Y Yang