Full data view for gene FIGF

Information The variants shown are described using the NM_004469.4 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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.-107273C>T r.(?) p.(=) 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.-107226C>T r.(?) p.(=) 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.-95867C>A r.(?) p.(=) 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.-72066G>A r.(?) p.(=) 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.-13537T>C r.(?) p.(=) 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6305G>A r.(?) p.(=) 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.-330A>G r.(?) p.(=) Maternal (inferred) - VUS g.15402398T>C g.15384276T>C - - FIGF_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-330A>G r.(?) p.(=) Maternal (inferred) - VUS g.15402398T>C g.15384276T>C - - FIGF_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-233_-232insCATGAG r.(?) p.(=) Maternal (inferred) - VUS g.15402303_15402304insATGCTC g.15384181_15384182insATGCTC - - FIGF_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-233_-232insCATGAG r.(?) p.(=) Maternal (inferred) - VUS g.15402303_15402304insATGCTC g.15384181_15384182insATGCTC - - FIGF_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-233_-232insCATGAG r.(?) p.(=) Maternal (inferred) - VUS g.15402303_15402304insATGCTC g.15384181_15384182insATGCTC - - FIGF_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-233_-232insCATGAG r.(?) p.(=) Maternal (inferred) - VUS g.15402303_15402304insATGCTC g.15384181_15384182insATGCTC - - FIGF_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.85G>A r.(?) p.(Val29Met) Unknown - VUS g.15401984C>T g.15383862C>T FIGF(NM_004469.4):c.85G>A (p.(Val29Met)), VEGFD(NM_004469.4):c.85G>A (p.V29M) - FIGF_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.85G>A r.(?) p.(Val29Met) Unknown - VUS g.15401984C>T - FIGF(NM_004469.4):c.85G>A (p.(Val29Met)), VEGFD(NM_004469.4):c.85G>A (p.V29M) - FIGF_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.91C>T r.(?) p.(Arg31Ter) 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.111G>A r.(?) p.(Leu37=) Parent #1 - likely benign g.15381421C>T g.15363299C>T L37L - FIGF_000019 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
?/. - c.301+122T>C r.(=) p.(=) Maternal (inferred) - VUS g.15381109A>G g.15362987A>G - - FIGF_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.301+122T>C r.(=) p.(=) Maternal (inferred) - VUS g.15381109A>G g.15362987A>G - - FIGF_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.347C>T r.(?) p.(Thr116Met) Unknown - VUS g.15376270G>A - VEGFD(NM_004469.4):c.347C>T (p.T116M) - FIGF_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.403C>G r.(?) p.(Pro135Ala) 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.493-49G>A r.(=) p.(=) Maternal (inferred) - VUS g.15373469C>T g.15355347C>T - - FIGF_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.493-49G>A r.(=) p.(=) Maternal (inferred) - VUS g.15373469C>T g.15355347C>T - - FIGF_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.590G>A r.(?) p.(Arg197His) 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.628C>T r.(?) p.(Pro210Ser) Unknown - VUS g.15373285G>A - VEGFD(NM_004469.4):c.628C>T (p.P210S) - FIGF_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.795C>T r.(?) p.(Asp265=) Unknown - likely benign g.15365429G>A - VEGFD(NM_004469.4):c.795C>T (p.D265=) - FIGF_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.805T>G r.(?) p.(Cys269Gly) 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.938+236del r.(=) p.(=) Unknown - VUS g.15365050del g.15346928del - - FIGF_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1009C>T r.(?) p.(Arg337Cys) 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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