Full data view for gene MICU1

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_001195518.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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.553C>T r.(?) p.(Arg185Ter) Both (homozygous) - pathogenic (recessive) g.74268012G>A g.72508254G>A - - MICU1_000038 - PubMed: Beheshti 2025, Journal: Beheshti 2025 - rs755651388 Germline yes - - - - DNA SEQ, SEQ-NG - - NMD Fam6PatIII1 PubMed: Beheshti 2025, Journal: Beheshti 2025 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) Both (homozygous) - pathogenic (recessive) g.74268012G>A g.72508254G>A - - MICU1_000038 - PubMed: Finsterer 2024, Journal: Finsterer 2024 - - Germline - - - - - DNA SEQ - - MYOP patient PubMed: Finsterer 2024, Journal: Finsterer 2024 2-generation family, 1 affected, unaffected heterozygous carrier parentsmyop F yes Austria - - - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) Both (homozygous) - pathogenic (recessive) g.74268012G>A g.72508254G>A - - MICU1_000038 - PubMed: Kohlschmidt 2021, Journal: Kohlschmidt 2021 - - Germline - - - - - DNA SEQ-NG - WGS MYOP Pat1 PubMed: Kohlschmidt 2021, Journal: Kohlschmidt 2021 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) Both (homozygous) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - cWES NMD Fam1 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - Arab;Middle-east - - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) Both (homozygous) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - cWES NMD Fam2 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 1 affected, unaffected parents F no Qatar Arab;Middle-east - - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) Both (homozygous) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - cWES NMD Fam3 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - Arab;Middle-east - - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) Both (homozygous) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - cWES NMD Fam4 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - Arab;Middle-east - - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) Both (homozygous) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - cWES NMD Fam5 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 3 affected brothers, unaffected heterozygous carrier parents M yes - Arab;Middle-east - - - - 3 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) Both (homozygous) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - cWES NMD Fam6 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 1 affected, unaffected parents F no - Arab;Middle-east - - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) Paternal (confirmed) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline - - - - - DNA arrayCGH, SEQ, SEQ-NG - cWES NMD Fam7 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - Arab;Middle-east - - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) Both (homozygous) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - cWES NMD Fam8 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 2 affected brothers/1 sister, unaffected heterozygous carrier parents M yes - Arab;Middle-east - - - - 3 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) Both (homozygous) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - cWES NMD Fam9 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - Arab;Middle-east - - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) Both (homozygous) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - cWES NMD Fam10 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - Arab;Middle-east - - - - 1 Johan den Dunnen
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