Full data view for gene MPZ

Information The variants shown are described using the NM_000530.6 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

Allele     

DNA change (genomic) (hg19)     

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DB-ID     

Frequency     

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Technique     

Disease     

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Ethnic origin     

Remarks     

Panel size     

Owner     
./. 3 c.270C>A r.(?) p.(Asp90Glu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.161276676G>T Hayasaka K1, Himoro M, Sato W, Takada G, Uyemura K, Shimizu N, Bird TD, Conneally PM, Chance PF.(1993) MPZ_000007 - ? ? HMSN Hayasaka K1, Himoro M, Sato W, Takada G, Uyemura K, Shimizu N, Bird TD, Conneally PM, Chance PF.(1993) - - 1 Y Yang
./. 3 c.270C>A r.(?) p.(Asp90Glu) - - Unknown g.161276676G>T Lupo V et al. (2015) MPZ_000007 - ? ? HMSN Lupo V et al. (2015) - - 1 XY Liu
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