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.
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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     
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Both (homozygous) - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - Healthy/Control - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Both (homozygous) - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - autism, BMD/DMD, CF, deafness NA04364 PubMed: Bell 2011 - M - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Both (homozygous) - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Both (homozygous) - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG, SEQ - COL6A1, COL6A2, COL6A3 MD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. 14 c.2636C>A r.(?) p.(Thr879Lys) Parent #1 - benign g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - rs17612126 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.2636C>A r.(?) p.(Thr879Lys) Unknown - benign g.68705674C>A g.68938206C>A IGHMBP2(NM_002180.2):c.2636C>A (p.T879K) - IGHMBP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2636C>A r.(?) p.(Thr879Lys) Unknown - benign g.68705674C>A g.68938206C>A IGHMBP2(NM_002180.2):c.2636C>A (p.T879K) - IGHMBP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - benign g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - PubMed: Grohmann, 2001 - - Germline - - - 0 - DNA SEQ - - DSMA1 F4; 18; 7 PubMed: Grohmann, 2001 affected sibling F no Germany - - 0 - - 2 Jorge Oliveira
-/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - benign g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - PubMed: Grohmann, 2001 - - Germline - - - 0 - DNA SEQ - - DSMA1 F5; 19 PubMed: Grohmann, 2001 - M yes Lebanon - - 0 - - 1 Jorge Oliveira
-/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - benign g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - PubMed: Grohmann, 2001 - - Germline - - - 0 - DNA SEQ - - DSMA1 F2; 10 PubMed: Grohmann, 2001 Four affected siblings F yes Lebanon - - 0 - - 5 Jorge Oliveira
-/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - benign g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ - - DSMA1 623SMA - - F yes Portugal - - 0 - - 1 Jorge Oliveira
?/. - c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Both (homozygous) - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 14 c.2636C>A r.(?) p.(Thr879Lys) Unknown - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.2636C>A r.(?) p.(Thr879Lys) Unknown - benign g.68705674C>A g.68938206C>A IGHMBP2 11:68462250 (hg18) het CM055288 44.2% - IGHMBP2_000003 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - 0 - DNA, RNA SEQ-NG blood - retinal disease NA01210 PubMed: Bell 2011 - ? - - - - 0 - - 1 LOVD
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