Individual #00004321

Reference Redys JJ.(1975)
Ethnic origin -
Remarks -
Panel size 1
Diseases SMA
Owner name Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

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Technique     

Genes screened     

Variants found     

Owner     
0000004321 ? ? IGHMBP2 1 Y Yang



Variants

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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

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Gene     

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DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
11 Unknown ./. g.68678998A>G Redys JJ.(1975) IGHMBP2_000002 - Y Yang IGHMBP2 5 NM_002180.2:c.638A>G r.(?) p.(His213Arg) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
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