Full data view for gene PIR

Information The variants shown are described using the NM_003662.3 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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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.-53806C>T r.(?) p.(=) Unknown - VUS g.15565032G>A g.15546909G>A BMX(NM_203281.2):c.1783G>A (p.V595I) - BMX_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-53776G>C r.(?) p.(=) Unknown - likely benign g.15565002C>G g.15546879C>G BMX(NM_001721.6):c.1753C>G (p.(His585Asp)) - BMX_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-32959G>A r.(?) p.(=) Unknown - likely benign g.15544185C>T g.15526062C>T BMX(NM_001721.6):c.851C>T (p.(Ser284Leu)) - BMX_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-32244G>C r.(?) p.(=) Unknown - likely benign g.15543470C>G g.15525347C>G BMX(NM_001721.6):c.812C>G (p.(Thr271Ser)) - BMX_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-186T>G r.(?) p.(=) Maternal (inferred) - VUS g.15511412A>C g.15493289A>C - - PIR_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-186T>G r.(?) p.(=) Maternal (inferred) - VUS g.15511412A>C g.15493289A>C - - PIR_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-53+122G>A r.(=) p.(=) Maternal (inferred) - VUS g.15511157C>T g.15493034C>T - - PIR_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-53+122G>A r.(=) p.(=) Maternal (inferred) - VUS g.15511157C>T g.15493034C>T - - PIR_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-52-268A>G r.(=) p.(=) Maternal (inferred) - VUS g.15509700T>C g.15491577T>C - - PIR_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-52-256C>T r.(=) p.(=) Maternal (inferred) - VUS g.15509688G>A g.15491565G>A - - PIR_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-52-256C>T r.(=) p.(=) Maternal (inferred) - VUS g.15509688G>A g.15491565G>A - - PIR_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.40C>T r.(?) p.(Arg14Trp) Unknown - likely benign g.15509341G>A g.15491218G>A PIR(NM_003662.3):c.40C>T (p.R14W) - BMX_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.87C>T r.(?) p.(Gly29=) Unknown - likely benign g.15509294G>A g.15491171G>A PIR(NM_003662.3):c.87C>T (p.G29=) - BMX_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.96+196T>C r.(=) p.(=) Maternal (inferred) - VUS g.15509089A>G g.15490966A>G - - PIR_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.96+196T>C r.(=) p.(=) Maternal (inferred) - VUS g.15509089A>G g.15490966A>G - - PIR_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.96+256T>C r.(=) p.(=) Maternal (inferred) - VUS g.15509029A>G g.15490906A>G - - PIR_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.96+256T>C r.(=) p.(=) Maternal (inferred) - VUS g.15509029A>G g.15490906A>G - - PIR_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.97-294G>A r.(=) p.(=) Maternal (inferred) - VUS g.15498238C>T g.15480115C>T - - PIR_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.97-294G>A r.(=) p.(=) Maternal (inferred) - VUS g.15498238C>T g.15480115C>T - - PIR_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.97-90A>G r.(=) p.(=) Maternal (inferred) - VUS g.15498034T>C g.15479911T>C - - PIR_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.97-90A>G r.(=) p.(=) Maternal (inferred) - VUS g.15498034T>C g.15479911T>C - - PIR_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.106C>A r.(?) p.(Leu36Met) Unknown - likely benign g.15497935G>T g.15479812G>T PIR(NM_001018109.2):c.106C>A (p.(Leu36Met)) - BMX_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.317G>A r.(?) p.(Cys106Tyr) Unknown - VUS g.15474134C>T g.15456011C>T PIR(NM_003662.3):c.317G>A (p.C106Y) - FIGF_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.659T>C r.(?) p.(Leu220Pro) Unknown - VUS g.15415605A>G g.15397483A>G PIR(NM_003662.3):c.659T>C (p.L220P) - FIGF_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 8 c.681G>A r.(?) p.(=) Parent #1 - likely benign g.15415583C>T g.15397461C>T Q227Q - PIR_000022 recurrent, found 18 times PubMed: Tarpey 2009 - - Germline - 18/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 18 Lucy Raymond
?/. - c.694G>A r.(?) p.(Asp232Asn) Unknown - VUS g.15408373C>T g.15390251C>T PIR(NM_001018109.2):c.694G>A (p.(Asp232Asn)) - PIR_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.761-113C>T r.(=) p.(=) Maternal (inferred) - VUS g.15403351G>A g.15385229G>A - - PIR_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.761-113C>T r.(=) p.(=) Maternal (inferred) - VUS g.15403351G>A g.15385229G>A - - PIR_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1142G>A r.(=) p.(=) Unknown - VUS g.15401984C>T g.15383862C>T FIGF(NM_004469.4):c.85G>A (p.(Val29Met)) - FIGF_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*21685C>T r.(=) p.(=) Unknown - VUS g.15381441G>A g.15363319G>A FIGF(NM_004469.4):c.91C>T (p.?) - FIGF_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*26856C>T r.(=) p.(=) Unknown - VUS g.15376270G>A - VEGFD(NM_004469.4):c.347C>T (p.T116M) - FIGF_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*26912C>G r.(=) p.(=) Unknown - likely benign g.15376214G>C g.15358092G>C VEGFD(NM_004469.4):c.403C>G (p.P135A) - FIGF_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*29803G>A r.(=) p.(=) Unknown - likely benign g.15373323C>T g.15355201C>T VEGFD(NM_004469.4):c.590G>A (p.R197H) - FIGF_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*29841C>T r.(=) p.(=) Unknown - VUS g.15373285G>A - VEGFD(NM_004469.4):c.628C>T (p.P210S) - FIGF_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*37707T>G r.(=) p.(=) Unknown - VUS g.15365419A>C g.15347297A>C VEGFD(NM_004469.4):c.805T>G (p.C269G) - FIGF_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*38815C>T r.(=) p.(=) Unknown - VUS g.15364311G>A g.15346189G>A FIGF(NM_004469.4):c.1009C>T (p.(Arg337Cys)) - FIGF_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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