Full data view for gene UNC45B

Information The variants shown are described using the NM_173167.2 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.2261G>A r.[(2261g>a,2261_2262insgugagugug)] p.[(Arg754Gln,Arg754Glnfs*2)] Both (homozygous) - pathogenic (recessive) g.33504629G>A g.35177610G>A - - UNC45B_000022 - Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Pat1 Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Puerto Rico Hispanic - - - - 1 Johan den Dunnen
+/. - c.2261G>A r.[2261g>a,2261_2262insgugagugug] p.[Arg754Gln,Arg754Glnfs*2] Both (homozygous) - pathogenic (recessive) g.33504629G>A g.35177610G>A - - UNC45B_000022 - Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES MYOP Pat3 Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.2261G>A r.[2261g>a,2261_2262insgugagugug] p.[Arg754Gln,Arg754Glnfs*2] Both (homozygous) - pathogenic (recessive) g.33504629G>A g.35177610G>A - - UNC45B_000022 - Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES MYOP Pat4 Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.2261G>A r.[(2261g>a,2261_2262insgugagugug)] p.[(Arg754Gln,Arg754Glnfs*2)] Both (homozygous) - pathogenic (recessive) g.33504629G>A g.35177610G>A - - UNC45B_000022 - Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Pat5 Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.2261G>A r.[(2261g>a,2261_2262insgugagugug)] p.[(Arg754Gln,Arg754Glnfs*2)] Both (homozygous) - pathogenic (recessive) g.33504629G>A g.35177610G>A - - UNC45B_000022 - Journal: Donkervoort 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Pat6 Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Thailand - - - - - 1 Johan den Dunnen
+/. - c.2261G>A r.[(2261g>a,2261_2262insgugagugug)] p.[(Arg754Gln,Arg754Glnfs*2)] Both (homozygous) - pathogenic (recessive) g.33504629G>A g.35177610G>A - - UNC45B_000022 - Journal: Donkervoort 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Pat7 Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Thailand - - - - - 1 Johan den Dunnen
+/. - c.2261G>A r.[(2261g>a,2261_2262insgugagugug)] p.[(Arg754Gln,Arg754Glnfs*2)] Both (homozygous) - pathogenic (recessive) g.33504629G>A g.35177610G>A - - UNC45B_000022 - Journal: Donkervoort 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Pat8 Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Thailand - - - - - 1 Johan den Dunnen
+/. - c.2261G>A r.[(2261g>a,2261_2262insgugagugug)] p.[(Arg754Gln,Arg754Glnfs*2)] Paternal (confirmed) - pathogenic (recessive) g.33504629G>A g.35177610G>A - - UNC45B_000022 - Donkervoort WMS2019, AbsO18, Journal: Donkervoort 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Pat9 Journal: Donkervoort 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy Sicily - - - - 1 Johan den Dunnen
+/. - c.2261G>A r.(?) p.(Arg754Gln) Unknown ACMG pathogenic (recessive) g.33504629G>A g.35177610G>A - - UNC45B_000022 - - - - Germline - - - - - DNA SEQ-NG-I - - MFM - - - - - France - - - - - 1 Svetlana Gorokhova
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