Full data view for gene MAN2B1

Information The variants shown are described using the NM_000528.3 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/? 7 c.935C>T r.935c>u p.Thr312Ile Paternal (confirmed) - benign g.12772165G>A g.12661351G>A C932T (Thr311Ile) - MAN2B1_000001 disrupts putative N-glycosylation site PubMed: Nilssen 1997 - - Germline - - MsiI - - DNA, RNA RT-PCR, SEQ - - MANSA - PubMed: Bach 1974 brother of 09158146-Pat2 M yes Palestine - - - - - 1 LOVD
-/? 7 c.935C>T r.935c>u p.Thr312Ile Maternal (inferred) - benign g.12772165G>A g.12661351G>A C932T (Thr311Ile) - MAN2B1_000001 disrupts putative N-glycosylation site PubMed: Nilssen 1997 - - Germline - - MsiI - - DNA, RNA RT-PCR, SEQ - - MANSA - PubMed: Bach 1974 brother of 09158146-Pat2 M yes Palestine - - - - - 1 LOVD
-/? 7 c.935C>T r.935c>u p.Thr312Ile Paternal (confirmed) - benign g.12772165G>A g.12661351G>A C932T (Thr311Ile) - MAN2B1_000001 disrupts putative N-glycosylation site PubMed: Nilssen 1997 - - Germline - - MsiI - - DNA, RNA RT-PCR, SEQ - - MANSA - PubMed: Bach 1974 brother of 09158146-Pat1 M yes Palestine - - - - - 1 LOVD
-/? 7 c.935C>T r.935c>u p.Thr312Ile Maternal (inferred) - benign g.12772165G>A g.12661351G>A C932T (Thr311Ile) - MAN2B1_000001 disrupts putative N-glycosylation site PubMed: Nilssen 1997 - - Germline - - MsiI - - DNA, RNA RT-PCR, SEQ - - MANSA - PubMed: Bach 1974 brother of 09158146-Pat1 M yes Palestine - - - - - 1 LOVD
+/? 7 c.935C>T r.935c>u p.Thr312Ile Maternal (inferred) - pathogenic g.12772165G>A g.12661351G>A C932T (Thr311Ile) - MAN2B1_000001 - PubMed: Nilssen 1997 - - Unknown - - MsiI - - DNA, RNA SEQ - - Healthy/Control - - father of 09158146-Pats M yes Palestine - - - - - 1 LOVD
-/? 7 c.935C>T r.935c>u p.Thr312Ile Paternal (confirmed) - benign g.12772165G>A g.12661351G>A C932T (Thr311Ile) - MAN2B1_000001 - PubMed: Nilssen 1997 - - Unknown - - MsiI - - DNA, RNA SEQ - - Healthy/Control - - father of 09158146-Pats M yes Palestine - - - - - 1 LOVD
-/? 7 c.935C>T r.(=) p.(Thr312Ile) Paternal (confirmed) - benign g.12772165G>A g.12661351G>A C932T (Thr311Ile) - MAN2B1_000001 46 control chromosomes PubMed: Nilssen 1997 - - Unknown - 19/46 MsiI - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - - - - Palestine - - - - - 19 LOVD
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