Unique variants in the SPRN gene

Information The variants shown are described using the NM_001012508.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
./. 1 2 c.20C>T r.(?) p.(Thr7Met) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.135237166G>A Beck JA1, Campbell TA, Adamson G, Poulter M, Uphill JB, Molou E, Collinge J, Mead S.(2008) SPRN_000001 - Y Yang
./. 1 2 c.136_137insG r.(?) p.(Ala46Glyfs*249) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel g.135237049_135237050insC Beck JA1, Campbell TA, Adamson G, Poulter M, Uphill JB, Molou E, Collinge J, Mead S.(2008) SPRN_000003 - Y Yang
./. 1 2 c.216_227delAGCCGGGGCGGC r.(?) p.(Ala79_Gly82del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion g.135236959_135236970delGCCGCCCCGGCT Beck JA1, Campbell TA, Adamson G, Poulter M, Uphill JB, Molou E, Collinge J, Mead S.(2008) SPRN_000002 - Y Yang
./. 1 2 c.239_250dup r.(?) p.(Leu83_Gly86dup) VariO:0142 DNA insertion VariO:0020 sequence retaining amino acid insertion g.135236936_135236947dup Beck JA1, Campbell TA, Adamson G, Poulter M, Uphill JB, Molou E, Collinge J, Mead S.(2008) SPRN_000004 - Y Yang
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