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)     

Reference     

DB-ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Ethnic origin     

Remarks     

Panel size     

Owner     
./. 3 c.404T>C r.(?) p.(Ile135Thr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.161276542A>G Roa BB1, Warner LE, Garcia CA, Russo D, Lovelace R, Chance PF, Lupski JR.(1996) MPZ_000008 - ? ? HMSN Roa BB1, Warner LE, Garcia CA, Russo D, Lovelace R, Chance PF, Lupski JR.(1996) - - 1 Y Yang
./. 3 c.404T>C r.(?) p.(Ile135Thr) - - Unknown g.161276542A>G Drac H et al. (2011) MPZ_000008 - ? ? HMSN Drac H et al. (2011) - - 1 XY Liu
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