Unique variants in the FAAH2 gene

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

33 entries on 1 page. Showing entries 1 - 33.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.99T>C r.(?) p.(=) - likely benign g.57313357T>C g.57286924T>C G33G - FAAH2_000004 recurrent, found 42 times PubMed: Tarpey 2009 - - Germline yes 42/208 cases - - - Lucy Raymond
-?/., ?/. 2 - c.124C>T r.(?) p.(Arg42Trp) - likely benign, VUS g.57313382C>T g.57286949C>T FAAH2(NM_174912.3):c.124C>T (p.(Arg42Trp)) - FAAH2_000001 recurrent, found 6 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline yes 6/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
-?/. 1 - c.240C>T r.(?) p.(Asp80=) - likely benign g.57318978C>T g.57292545C>T FAAH2(NM_174912.3):c.240C>T (p.D80=) - FAAH2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.275+3G>A r.spl? p.? - likely benign g.57319016G>A g.57292583G>A FAAH2(NM_174912.3):c.275+3G>A (, p.?) - FAAH2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 2 2i c.276-202T>C r.(=) p.(=) - likely benign g.57336824T>C g.57310391T>C - - FAAH2_000005 - - - - Germline - - - - - Yu Sun
?/. 1 - c.368T>C r.(?) p.(Phe123Ser) - VUS g.57337118T>C g.57310685T>C - - FAAH2_000043 - PubMed: Taylor 2014 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.443G>A r.(?) p.(Arg148His) - VUS g.57358061G>A g.57331628G>A FAAH2(NM_174912.3):c.443G>A (p.(Arg148His)) - FAAH2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.464C>T r.(?) p.(Thr155Ile) - likely benign g.57358082C>T g.57331649C>T FAAH2(NM_174912.3):c.464C>T (p.T155I) - FAAH2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.822T>C r.(?) p.(=) - VUS g.57405163T>C g.57378730T>C - - FAAH2_000006 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.870G>C r.(?) p.(Gly290=) - likely benign g.57405211G>C - FAAH2(NM_174912.3):c.870G>C (p.G290=) - FAAH2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.904T>G r.(?) p.(Leu302Val) - likely benign g.57407370T>G g.57380937T>G FAAH2(NM_174912.3):c.904T>G (p.L302V) - FAAH2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.934C>A r.(?) p.(His312Asn) - VUS g.57407400C>A g.57380967C>A - - FAAH2_000035 - - - - Germline - - - - - Karine Poirier
-?/. 1 - c.966G>A r.(?) p.(=) - likely benign g.57407432G>A g.57380999G>A V322V - FAAH2_000003 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline yes 1/208 cases - - - Lucy Raymond
?/. 1 - c.997-164_997-162del r.(=) p.(=) - VUS g.57458187_57458189del g.57431754_57431756del - - FAAH2_000019 - - - - Germline - - - - - Yu Sun
?/. 1 - c.997-132dup r.(=) p.(=) - VUS g.57458219dup g.57431786dup - - FAAH2_000020 - - - - Germline - - - - - Yu Sun
?/. 2 - c.997-130_997-123dup r.(=) p.(=) - VUS g.57458221_57458228dup g.57431788_57431795dup - - FAAH2_000011 - - - - Germline - - - - - Yu Sun
?/. 1 - c.997-123_997-122insTTTTTTTTT r.(=) p.(=) - VUS g.57458228_57458229insTTTTTTTTT g.57431795_57431796insTTTTTTTTT - - FAAH2_000010 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1024G>A r.(?) p.(Gly342Arg) - VUS g.57458378G>A g.57431945G>A FAAH2(NM_174912.3):c.1024G>A (p.(Gly342Arg)) - FAAH2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1088T>C r.(?) p.(Met363Thr) - likely benign g.57458442T>C g.57432009T>C FAAH2(NM_174912.3):c.1088T>C (p.M363T) - FAAH2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 8i_10i c.(1116+1_1117-2228)_(1423+1473_1424-1)del r.[997_1423del, 1117_1423]del p.[Val334Serfs*9, Glu373Valfs*10] - likely pathogenic g.(57458471_57471133)_(57476624_57515189)del - hg18 chrX:g.57487858-57493349del - FAAH2_000021 not in 450 controls PubMed: Wibley 2010 - - Unknown ? - - - - Johan den Dunnen
?/. 1 - c.1199G>T r.(?) p.(Gly400Val) - VUS g.57473443G>T g.57447010G>T FAAH2(NM_174912.3):c.1199G>T (p.G400V) - FAAH2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1229-14A>T r.(=) p.(=) - VUS g.57474943A>T g.57448510A>T - - FAAH2_000013 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.1230A>T r.(?) p.(Gly410=) - likely benign g.57474958A>T - FAAH2(NM_174912.3):c.1230A>T (p.G410=) - FAAH2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1294G>T r.(?) p.(Glu432Ter) - likely benign g.57475022G>T g.57448589G>T FAAH2(NM_174912.3):c.1294G>T (p.(Glu432Ter)) - FAAH2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1318G>A r.(?) p.(Val440Met) - likely benign g.57475046G>A - FAAH2(NM_174912.3):c.1318G>A (p.V440M) - FAAH2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1321G>A r.(?) p.(Asp441Asn) - likely benign g.57475049G>A g.57448616G>A FAAH2(NM_174912.3):c.1321G>A (p.D441N) - FAAH2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1340G>A r.(?) p.(Gly447Asp) - VUS g.57475068G>A g.57448635G>A FAAH2(NM_174912.3):c.1340G>A (p.G447D) - FAAH2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1372G>T r.(?) p.(Ala458Ser) - pathogenic g.57475100G>T g.57448667G>T Ala458Ser - FAAH2_000008 - - - - Germline yes 0.0009238 (from ExAC) - - - Casper Shyr
-?/., ?/. 3 - c.1404T>C r.(?) p.(=) - likely benign, VUS g.57475132T>C g.57448699T>C P468P - FAAH2_000002 recurrent, found 17 times PubMed: Tarpey 2009 - - Germline yes 17/208 cases - - - Yu Sun, Lucy Raymond
-?/. 1 - c.1483G>A r.(?) p.(Gly495Arg) - likely benign g.57515249G>A g.57488816G>A FAAH2(NM_174912.3):c.1483G>A (p.G495R) - FAAH2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1496G>A r.(?) p.(Gly499Asp) - VUS g.57515262G>A - FAAH2(NM_174912.3):c.1496G>A (p.G499D) - FAAH2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.1570G>A r.(?) p.(Gly524Arg) - VUS g.57515336G>A g.57488903G>A FAAH2(NM_174912.3):c.1570G>A (p.G524R) - FAAH2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 11 c.*74T>C r.(=) p.(=) - VUS g.57515439T>C g.57489006T>C - - FAAH2_000007 - - - - Germline - - - - - Yu Sun
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