Full data view for gene FAAH2

Information The variants shown are described using the NM_174912.3 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
Legend  

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.99T>C - r.(?) p.(=) Parent #1 g.57313357T>C g.57286924T>C G33G - FAAH2_000004 recurrent, found 42 times PubMed: Tarpey 2009 - - Germline yes 42/208 cases - 0 - DNA SEQ - - MRX;IDX 19377462-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 42 Lucy Raymond
?/. - c.124C>T - r.(?) p.(Arg42Trp) Parent #1 g.57313382C>T g.57286949C>T - - FAAH2_000001 recurrent, found 6 times PubMed: Tarpey 2009 - - Germline yes 6/208 cases - 0 - DNA SEQ - - MRX;IDX 19377459-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 6 Lucy Raymond
-?/. - c.140C>G likely benign r.(?) p.(Pro47Arg) Unknown g.57313398C>G - FAAH2(NM_174912.3):c.140C>G (p.(Pro47Arg)) - FAAH2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.240C>T likely benign r.(?) p.(=) Unknown g.57318978C>T - FAAH2(NM_174912.3):c.240C>T (p.D80=) - FAAH2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.275+3G>A likely benign r.spl? p.? Unknown g.57319016G>A - FAAH2(NM_174912.3):c.275+3G>A (p.?) - FAAH2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 2i c.276-202T>C - r.(=) p.(=) Maternal (inferred) g.57336824T>C g.57310391T>C - - FAAH2_000005 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 2i c.276-202T>C - r.(=) p.(=) Maternal (inferred) g.57336824T>C g.57310391T>C - - FAAH2_000005 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.443G>A VUS r.(?) p.(Arg148His) Unknown g.57358061G>A - FAAH2(NM_174912.3):c.443G>A (p.(Arg148His)) - FAAH2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.464C>T likely benign r.(?) p.(Thr155Ile) Unknown g.57358082C>T - FAAH2(NM_174912.3):c.464C>T (p.T155I) - FAAH2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.551A>C VUS r.(?) p.(Glu184Ala) Unknown g.57358169A>C - FAAH2(NM_174912.3):c.551A>C (p.(Glu184Ala)) - FAAH2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.742+6G>T likely benign r.(=) p.(=) Unknown g.57367829G>T - FAAH2(NM_174912.3):c.742+6G>T (p.(=)) - FAAH2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.822T>C - - p.(=) Maternal (inferred) g.57405163T>C g.57378730T>C - - FAAH2_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.822T>C - - p.(=) Maternal (inferred) g.57405163T>C g.57378730T>C - - FAAH2_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.904T>G likely benign r.(?) p.(Leu302Val) Unknown g.57407370T>G - FAAH2(NM_174912.3):c.904T>G (p.L302V) - FAAH2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.934C>A VUS r.(?) p.(His312Asn) Maternal (inferred) g.57407400C>A - - - FAAH2_000035 - - - - Germline - - - 0 - DNA SEQ-NG blood - - - - - M no - - - 0 - - 1 Karine Poirier
-?/. - c.966G>A - r.(?) p.(=) Parent #1 g.57407432G>A g.57380999G>A V322V - FAAH2_000003 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline yes 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377461-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.997-164_997-162del - - p.(=) Unknown g.57458187_57458189del g.57431754_57431756del - - FAAH2_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.997-139_997-138insT - - p.(=) Unknown g.57458212_57458213insT g.57431779_57431780insT - - FAAH2_000020 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.997-123_997-122insTTTTTTTT - - p.(=) Unknown g.57458228_57458229insTTTTTTTT g.57431795_57431796insTTTTTTTT - - FAAH2_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.997-123_997-122insTTTTTTTT - - p.(=) Maternal (inferred) g.57458228_57458229insTTTTTTTT g.57431795_57431796insTTTTTTTT - - FAAH2_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.997-123_997-122insTTTTTTTTT - - p.(=) Unknown g.57458228_57458229insTTTTTTTTT g.57431795_57431796insTTTTTTTTT - - FAAH2_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.997-3A>G VUS r.spl? p.? Unknown g.57458348A>G - FAAH2(NM_174912.3):c.997-3A>G (p.?) - FAAH2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1024G>A VUS r.(?) p.(Gly342Arg) Unknown g.57458378G>A - FAAH2(NM_174912.3):c.1024G>A (p.(Gly342Arg)) - FAAH2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1088T>C likely benign r.(?) p.(Met363Thr) Unknown g.57458442T>C - FAAH2(NM_174912.3):c.1088T>C (p.M363T) - FAAH2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8i_10i c.(1116+1_1117-2228)_(1423+1473_1424-1)del - r.[997_1423del, 1117_1423]del p.[Val334Serfs*9, Glu373Valfs*10] Unknown g.(57458471_57471133)_(57476624_57515189)del - hg18 chrX:g.57487858-57493349del - FAAH2_000021 not in 450 controls PubMed: Wibley 2010 - - Unknown ? - - 0 - DNA, RNA arrayCGH, RT-PCR, SEQ - - MRX;IDX - PubMed: Wibley 2010 2-generation family, 2 affecteds M - - - - 0 - - 2 Johan den Dunnen
?/. - c.1199G>T VUS r.(?) p.(Gly400Val) Unknown g.57473443G>T - FAAH2(NM_174912.3):c.1199G>T (p.G400V) - FAAH2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1229-14A>T - - p.(=) Maternal (inferred) g.57474943A>T g.57448510A>T - - FAAH2_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1229-14A>T - - p.(=) Maternal (inferred) g.57474943A>T g.57448510A>T - - FAAH2_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1294G>T likely benign r.(?) p.(Glu432*) Unknown g.57475022G>T - FAAH2(NM_174912.3):c.1294G>T (p.(Glu432Ter)) - FAAH2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1321G>A likely benign r.(?) p.(Asp441Asn) Unknown g.57475049G>A - FAAH2(NM_174912.3):c.1321G>A (p.D441N) - FAAH2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1333G>C likely benign r.(?) p.(Asp445His) Unknown g.57475061G>C - FAAH2(NM_174912.3):c.1333G>C (p.(Asp445His)) - FAAH2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1340G>A VUS r.(?) p.(Gly447Asp) Unknown g.57475068G>A - FAAH2(NM_174912.3):c.1340G>A (p.G447D) - FAAH2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1372G>T - r.(?) p.(Ala458Ser) Maternal (confirmed) g.57475100G>T g.57448667G>T Ala458Ser - FAAH2_000008 - - - - Germline yes 0.0009238 (from ExAC) - 0 - DNA SEQ-NG-I - - TSC-2 - - - M no - - - 0 - - 1 Casper Shyr
?/. - c.1404T>C - - p.(=) Maternal (inferred) g.57475132T>C g.57448699T>C - - FAAH2_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1404T>C - - p.(=) Maternal (inferred) g.57475132T>C g.57448699T>C - - FAAH2_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1404T>C - r.(?) p.(=) Parent #1 g.57475132T>C g.57448699T>C P468P - FAAH2_000002 recurrent, found 17 times PubMed: Tarpey 2009 - - Germline yes 17/208 cases - 0 - DNA SEQ - - MRX;IDX 19377460-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 17 Lucy Raymond
-?/. - c.1483G>A likely benign r.(?) p.(Gly495Arg) Unknown g.57515249G>A - FAAH2(NM_174912.3):c.1483G>A (p.G495R) - FAAH2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1496G>A VUS r.(?) p.(Gly499Asp) Unknown g.57515262G>A - FAAH2(NM_174912.3):c.1496G>A (p.G499D) - FAAH2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1570G>A VUS r.(?) p.(Gly524Arg) Unknown g.57515336G>A - FAAH2(NM_174912.3):c.1570G>A (p.G524R) - FAAH2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 11 c.*74T>C - r.(=) p.(=) Maternal (inferred) g.57515439T>C g.57489006T>C - - FAAH2_000007 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 11 c.*74T>C - r.(=) p.(=) Maternal (inferred) g.57515439T>C g.57489006T>C - - FAAH2_000007 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
Legend