Full data view for gene IGHMBP2

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_002180.2 transcript reference sequence.

51 entries on 1 page. Showing entries 1 - 51.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - ?, JBS - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Both (homozygous) g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Both (homozygous) g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - autism - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - autism, CF - PubMed: Bell 2011 - M - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - autism - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Both (homozygous) g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - autism - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Both (homozygous) g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Both (homozygous) g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
-/. 14 c.2636C>A - r.(?) p.(Thr879Lys) Parent #1 g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - rs17612126 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.2636C>A benign r.(?) p.(Thr879Lys) Unknown g.68705674C>A - IGHMBP2(NM_002180.2):c.2636C>A (p.Thr879Lys) - IGHMBP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2636C>A benign r.(?) p.(Thr879Lys) Unknown g.68705674C>A - IGHMBP2(NM_002180.2):c.2636C>A (p.Thr879Lys) - IGHMBP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 14 c.2636C>A benign r.(?) p.(Thr879Lys) Unknown g.68705674C>A - - - IGHMBP2_000003 - PubMed: Grohmann, 2001 - - Germline - - - 0 - DNA SEQ - - DSMA-1 F4; 18; 7 PubMed: Grohmann, 2001 affected sibling F no Germany - - 0 - - 2 Jorge Oliveira
-/. 14 c.2636C>A benign r.(?) p.(Thr879Lys) Unknown g.68705674C>A - - - IGHMBP2_000003 - PubMed: Grohmann, 2001 - - Germline - - - 0 - DNA SEQ - - DSMA-1 F5; 19 PubMed: Grohmann, 2001 - M yes Lebanon - - 0 - - 1 Jorge Oliveira
-/. 14 c.2636C>A benign r.(?) p.(Thr879Lys) Unknown g.68705674C>A - - - IGHMBP2_000003 - PubMed: Grohmann, 2001 - - Germline - - - 0 - DNA SEQ - - DSMA-1 F2; 10 PubMed: Grohmann, 2001 Four affected siblings F yes Lebanon - - 0 - - 5 Jorge Oliveira
-/. 14 c.2636C>A benign r.(?) p.(Thr879Lys) Unknown g.68705674C>A - - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ - - DSMA-1 623SMA - - F yes Portugal - - 0 - - 1 Jorge Oliveira
Legend