Full data view for gene FAM122C

NOTE: gene name changed from FAM122C to PABIR3
Information The variants shown are described using the NM_138819.3 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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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     
-?/. - c.-3503T>A r.(?) p.(=) Unknown - likely benign g.133938126T>A g.134804096T>A FAM122C(NM_001170780.1):c.-97-5T>A - FAM122C_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.110+8G>C r.(=) p.(=) Unknown - likely benign g.133941746G>C - FAM122C(NM_001170779.1):c.110+8G>C (p.(=)) - FAM122C_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.111-68del r.(=) p.(=) Unknown - VUS g.133948733del g.134814703del - - FAM122C_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.189+6395del r.(=) p.(=) Maternal (inferred) - VUS g.133955274del g.134821244del - - FAM122C_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.189+6395del r.(=) p.(=) Unknown - VUS g.133955274del g.134821244del - - FAM122C_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.189+6491C>A r.(=) p.(=) Unknown - VUS g.133955370C>A g.134821340C>A FAM122C(NM_001170783.1):c.203C>A (p.P68H) - FAM122C_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.189+6675C>G r.(=) p.(=) Unknown - likely benign g.133955554C>G g.134821524C>G FAM122C(NM_001170782.1):c.245C>G (p.T82S) - FAM122C_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.202C>T r.(?) p.(Pro68Ser) Maternal (inferred) - VUS g.133963268C>T g.134829238C>T - - FAM122C_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.202C>T r.(?) p.(Pro68Ser) Maternal (inferred) - VUS g.133963268C>T g.134829238C>T - - FAM122C_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 2 c.202C>T r.(?) p.(Pro68Ser) Parent #1 - VUS g.133963268C>T g.134829238C>T P68S - FAM122C_000003 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
?/. - c.385A>C r.(?) p.(Ile129Leu) Unknown - VUS g.133981452A>C g.134847422A>C FAM122C(NM_138819.3):c.385A>C (p.(Ile129Leu)) - FAM122C_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.425A>G r.(?) p.(Lys142Arg) Unknown - likely benign g.133981492A>G g.134847462A>G FAM122C(NM_138819.3):c.425A>G (p.(Lys142Arg)) - FAM122C_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.438+3A>G r.spl? p.? Unknown - likely benign g.133981508A>G g.134847478A>G FAM122C(NM_138819.3):c.438+3A>G (p.?) - FAM122C_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.439-1270A>G r.(=) p.(=) Unknown - likely benign g.133986851A>G g.134852821A>G FAM122C(NM_001170779.1):c.367A>G (p.N123D) - FAM122C_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.443C>T r.(?) p.(Thr148Ile) Unknown - likely benign g.133988125C>T g.134854095C>T FAM122C(NM_138819.3):c.443C>T (p.T148I) - FAM122C_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6del r.(?) p.(=) Unknown - likely benign g.133988147del - FAM122C(NM_001170779.1):c.469del (p.(Thr157Argfs*9)) - FAM122C_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*106G>A r.(=) p.(=) Unknown - VUS g.133988247G>A g.134854217G>A FAM122C(NM_001170779.1):c.569G>A (p.(Ser190Asn)) - FAM122C_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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