Full data view for gene CA5B

Information The variants shown are described using the NM_007220.3 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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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     
?/. - c.131G>A VUS r.(?) p.(Arg44Gln) Unknown g.15768277G>A - CA5B(NM_007220.3):c.131G>A (p.(Arg44Gln)) - CA5B_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.140C>T likely benign r.(?) p.(Ala47Val) Unknown g.15768286C>T - CA5B(NM_007220.3):c.140C>T (p.A47V) - CA5B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.143-251C>T - - p.(=) Maternal (inferred) g.15782450C>T g.15764327C>T - - CA5B_000025 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.143-251C>T - - p.(=) Maternal (inferred) g.15782450C>T g.15764327C>T - - CA5B_000025 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.189C>A - r.(=) p.(=) Parent #1 g.15782747C>A - R63R - CA5B_000038 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.341-286A>G - - p.(=) Maternal (inferred) g.15790333A>G g.15772210A>G - - CA5B_000027 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.514C>G likely benign r.(?) p.(Leu172Val) Unknown g.15792479C>G - CA5B(NM_007220.3):c.514C>G (p.L172V) - CA5B_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.555+7T>A - - p.(=) Maternal (inferred) g.15792527T>A g.15774404T>A - - CA5B_000028 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.619-310G>A - - p.(=) Maternal (inferred) g.15794527G>A g.15776404G>A - - CA5B_000029 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.619-310G>A - - p.(=) Maternal (inferred) g.15794527G>A g.15776404G>A - - CA5B_000029 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.619-73G>A - - p.(=) Maternal (inferred) g.15794764G>A g.15776641G>A - - CA5B_000031 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.619-73G>A - - p.(=) Maternal (inferred) g.15794764G>A g.15776641G>A - - CA5B_000031 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.619-22G>A - - p.(=) Maternal (inferred) g.15794815G>A g.15776692G>A - - CA5B_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.619-22G>A - - p.(=) Maternal (inferred) g.15794815G>A g.15776692G>A - - CA5B_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.775-203A>G - - p.(=) Maternal (inferred) g.15800405A>G g.15782282A>G - - CA5B_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.775-203A>G - - p.(=) Maternal (inferred) g.15800405A>G g.15782282A>G - - CA5B_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.918G>A - r.(=) p.(=) Parent #1 g.15800751G>A - A306A - CA5B_000039 recurrent, found 66 times PubMed: Tarpey 2009 - - Germline - 66/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 66 Lucy Raymond
?/. - c.*543A>C - - p.(=) Maternal (inferred) g.15801330A>C g.15783207A>C - - CA5B_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*543A>C - - p.(=) Maternal (inferred) g.15801330A>C g.15783207A>C - - CA5B_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*856A>G - - p.(=) Maternal (inferred) g.15801643A>G g.15783520A>G - - CA5B_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*856A>G - - p.(=) Maternal (inferred) g.15801643A>G g.15783520A>G - - CA5B_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*2013C>G - - p.(=) Maternal (inferred) g.15802800C>G g.15784677C>G - - CA5B_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*2013C>G - - p.(=) Maternal (inferred) g.15802800C>G g.15784677C>G - - CA5B_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*3200_*3201insT - - p.(=) Maternal (inferred) g.15803987_15803988insT g.15785864_15785865insT - - CA5B_000035 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*3200_*3201insT - - p.(=) Maternal (inferred) g.15803987_15803988insT g.15785864_15785865insT - - CA5B_000035 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*3209dup - - p.(=) Maternal (inferred) g.15803996dup g.15785873dup - - CA5B_000021 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*3209dup - - p.(=) Maternal (inferred) g.15803996dup g.15785873dup - - CA5B_000021 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*3599_*3600insA - - p.(=) Maternal (inferred) g.15804386_15804387insA g.15786263_15786264insA - - CA5B_000034 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*3599_*3600insA - - p.(=) Maternal (inferred) g.15804386_15804387insA g.15786263_15786264insA - - CA5B_000034 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*3600dup - - p.(=) Maternal (inferred) g.15804387dup g.15786264dup - - CA5B_000023 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*3600dup - - p.(=) Maternal (inferred) g.15804387dup g.15786264dup - - CA5B_000023 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*4197G>A - - p.(=) Maternal (inferred) g.15804984G>A g.15786861G>A - - CA5B_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*4197G>A - - p.(=) Maternal (inferred) g.15804984G>A g.15786861G>A - - CA5B_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*4784G>A - - p.(=) Maternal (inferred) g.15805571G>A g.15787448G>A - - CA5B_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*4784G>A - - p.(=) Maternal (inferred) g.15805571G>A g.15787448G>A - - CA5B_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
Legend