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.

15 entries on 1 page. Showing entries 1 - 15.
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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     
+/. 10i c.1072-1G>C r.spl p.? Both (homozygous) - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 homozygosity mapping, exome sequencing PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - DNA SEQ, SEQ-NG-I - - MPXPS - PubMed: Logan 2014 5-generation family, 5 affecteds, unaffected heterozygous carrier parents, patient 2a M yes United Kingdom (Great Britain) Pakistani >5y - - - 5 Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? Both (homozygous) - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 homozygosity mapping PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - DNA SEQ - - MPXPS - PubMed: Logan 2014 5-generation family, patient 2b F yes United Kingdom (Great Britain) Pakistani >22m - - - 1 Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? Both (homozygous) - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 homozygosity mapping PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - DNA SEQ - - MPXPS - PubMed: Logan 2014 5-generation family, 5 affecteds, unaffected heterozygous carrier parents, patient 3a M yes United Kingdom (Great Britain) Pakistani >5y10m - - - 5 Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? Both (homozygous) - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 homozygosity mapping PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - DNA SEQ - - MPXPS - PubMed: Logan 2014 5-generation family, patient 3b F yes United Kingdom (Great Britain) Pakistani >3y2m - - - 1 Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? Both (homozygous) - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 homozygosity mapping PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - DNA SEQ - - MPXPS - PubMed: Logan 2014 5-generation family, 1 affected, unaffected heterozygous carrier parents F yes United Kingdom (Great Britain) Pakistani >10y8m - - - 1 Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? Both (homozygous) - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 - PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - DNA SEQ - - MPXPS - PubMed: Logan 2014 4-generation family, 2 affecteds, unaffected heterozygous carrier parents, atient 5 M yes United Kingdom (Great Britain) Pakistani >13y7m - - - 2 Johan den Dunnen
+/. 10i c.1072-1G>C r.1071_1072ins[1072-34_1072-2;C] p.Gly358ValfsTer28 Both (homozygous) - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 - PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - MPXPS - PubMed: Logan 2014 4-generation family, patient 6 F yes United Kingdom (Great Britain) Pakistani >10y8m - - - 1 Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? Both (homozygous) - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 - PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - DNA SEQ - - MPXPS - PubMed: Logan 2014 unaffected heterozygous carrier parents F no United Kingdom (Great Britain) Pakistani >6y - - - 1 Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? Both (homozygous) - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 exome sequencing PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - DNA SEQ, SEQ-NG-I - - MPXPS - PubMed: Logan 2014 2-generation family, 2 affecteds, unaffected heterozygous carrier parents,patient 8a F no United Kingdom (Great Britain) Pakistani >27y - - - 2 Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? Both (homozygous) - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 exome sequencing PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - DNA SEQ, SEQ-NG-I - - MPXPS - PubMed: Logan 2014 2-generation family, patient 8b F no United Kingdom (Great Britain) Pakistani >17y - - - 1 Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? Both (homozygous) - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 - PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - DNA SEQ - - MPXPS - PubMed: Logan 2014 unaffected heterozygous carrier parents M no United Kingdom (Great Britain) Pakistani >13y7m - - - 1 Johan den Dunnen
+?/. 10i c.1072-1G>C r.spl p.? Unknown ACMG pathogenic g.74167796C>G g.72408038C>G - - MICU1_000012 - - - rs754639936 Germline - - - - - DNA SEQ-NG - - MPXPS - - - M no India - - - - - 1 Gautham Arunachal
?/. 10i c.1072-1G>C r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 - Pending - rs754639936 Germline - - - - - DNA SEQ-NG-I - WGS MPXPS - Pending - M - France - - - - - 1 Camille Verebi
+/. - c.1072-1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.74167796C>G g.72408038C>G NM_006077:c.1078-1G>C - MICU1_000012 - PubMed: Fevga 2022, Journal: Fevga 2022 - rs754639936 Germline - - - - - DNA SEQ, SEQ-NG - WES DYT family PubMed: Fevga 2022, Journal: Fevga 2022 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes India - - - - - 1 Johan den Dunnen
+/. - c.1072-1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.74167796C>G g.72408038C>G - - MICU1_000012 - PubMed: Mukherjee 2023, PubMed: Mukherjee 2023 - rs754639936 Germline - - - - - DNA SEQ-NG - WES MYOP patient PubMed: Mukherjee 2023, PubMed: Mukherjee 2023 2-generation family, 1 affected, unaffected parents M - India - - - - - 1 Johan den Dunnen
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