Full data view for gene FAM122B

NOTE: gene name changed from FAM122B to PABIR2
Information The variants shown are described using the NM_145284.5 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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     
-?/. 2 c.84A>G r.(?) p.(=) Parent #1 - likely benign g.133930152T>C g.134796122T>C L28L - FAM122B_000006 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. 5 c.252A>G r.(?) p.(=) Parent #1 - likely benign g.133923139T>C g.134789109T>C Q84Q - FAM122B_000005 recurrent, found 6 times PubMed: Tarpey 2009 - - Germline - 6/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 6 Lucy Raymond
-?/. 5 c.255A>G r.(?) p.(=) Parent #1 - likely benign g.133923136T>C g.134789106T>C S85S - FAM122B_000004 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.372C>T r.(?) p.(Phe124=) Unknown - likely benign g.133922766G>A - FAM122B(NM_001331088.1):c.441C>T (p.F147=) - FAM122B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.441-7A>G r.(=) p.(=) Unknown - likely benign g.133919987T>C g.134785957T>C FAM122B(NM_001170757.1):c.339-7A>G (p.(=)) - FAM122B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.577G>A r.(?) p.(Ala193Thr) Unknown - VUS g.133915876C>T g.134781846C>T FAM122B(NM_001166599.2):c.574G>A (p.(Ala192Thr)) - FAM122B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.670G>A r.(?) p.(Ala224Thr) Unknown - VUS g.133906246C>T g.134772216C>T FAM122B(NM_001166599.2):c.667G>A (p.(Ala223Thr)) - FAM122B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*1738dup r.(=) p.(=) Unknown - VUS g.133904432dup g.134770402dup - - FAM122B_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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