Full data view for gene B2M

Mutations in Hereditary Amyloidosis; consortium homepage
Information The variants shown are described using the NM_004048.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/. 1 c.31G>C r.(?) p.(Ala11Pro) Both (homozygous) - pathogenic g.45003775G>C g.44711577G>C G913C - B2M_000001 not in 200 control chromosomes; study incl. functional protein analysis PubMed: Wani 2006, Journal: Wani 2006, OMIM:var0001 - - Germline yes - HinP1I - 0 - DNA SEQ - - IMD43 - PubMed: Wani 2006, Journal: Wani 2006 2-generation family, 2 affected sibs ? yes United States - - 0 - - 2 Johan den Dunnen
+/. 2 c.286G>A r.(?) p.(Asp96Asn) Parent #1 - pathogenic g.45007839G>A g.44715641G>A Asp76Asn - B2M_000002 study includes functional analysis variant protein PubMed: Valleix 2012, Journal: Valleix 2012, OMIM:var0002 - - Germline yes - - 0 - DNA SEQ - - amyloidosis, visceral (type VIII) - PubMed: Valleix 2012, Journal: Valleix 2012 3-generation family, 5 affecteds (3F, 2M) - no (France) - - 0 - - 5 Johan den Dunnen
-/. - c.*14+140G>A r.(=) p.(=) Unknown - benign g.45008694G>A - B2M(NM_004048.3):c.*14+140G>A - B2M_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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