Full data view for gene MECR

Information The variants shown are described using the NM_016011.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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.695G>A r.(?) p.(Gly232Glu) Parent #1 - pathogenic (recessive) g.29528516C>T g.29202004C>T - - MECR_000005 - PubMed: Heimer 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES DYT FamA PubMed: Heimer 2016 2-generation family, 1 affected M no - Ashkenazi jewish - 0 - - 1 Johan den Dunnen
+/. - c.695G>A r.(?) p.(Gly232Glu) Paternal (confirmed) - pathogenic (recessive) g.29528516C>T g.29202004C>T - - MECR_000005 - PubMed: Heimer 2016 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES DYT FamB PubMed: Heimer 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - Ashkenazi jewish (Morocco/India);Ashkenazi jewish - 0 - - 1 Johan den Dunnen
+/. - c.695G>A r.(?) p.(Gly232Glu) Parent #1 - pathogenic (recessive) g.29528516C>T g.29202004C>T - - MECR_000005 - PubMed: Heimer 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES DYT FamCPatII2 PubMed: Heimer 2016 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no - Ashkenazi jewish - 0 - - 2 Johan den Dunnen
+/. - c.695G>A r.(?) p.(Gly232Glu) Parent #1 - pathogenic (recessive) g.29528516C>T g.29202004C>T - - MECR_000005 - PubMed: Heimer 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES DYT FamCPatII8 PubMed: Heimer 2016 Pat2 M no - Ashkenazi jewish - 0 - - 1 Johan den Dunnen
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