Unique variants in gene HABP2

Information The variants shown are described using the NM_004132.3 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.70-5T>G likely benign r.spl? p.? g.115327243T>G - HABP2(NM_004132.4):c.70-5T>G - HABP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.95G>T likely benign r.(?) p.(Ser32Ile) g.115327273G>T - HABP2(NM_004132.4):c.95G>T (p.S32I) - HABP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.497C>T likely benign r.(?) p.(Ser166Phe) g.115337833C>T - HABP2(NM_004132.4):c.497C>T (p.S166F) - HABP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.508C>T VUS r.(?) p.(Arg170Trp) g.115337844C>T - HABP2(NM_004132.4):c.508C>T (p.R170W) - HABP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/. 2 - c.607C>T VUS, likely benign r.(?) p.(Arg203*) g.115338424C>T - HABP2(NM_004132.4):c.607C>T (p.R203*) - HABP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
-?/. 1 - c.842T>C likely benign r.(?) p.(Val281Ala) g.115341638T>C - HABP2(NM_004132.4):c.842T>C (p.V281A) - HABP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1519-316C>A - - p.(=) g.115347648C>A g.113587889C>A - - HABP2_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.*1334A>T likely benign r.(=) p.(=) g.115349462A>T - NRAP(NM_001261463.1):c.5051T>A (p.L1684Q) - NRAP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*9616C>G VUS r.(=) p.(=) g.115357744C>G - NRAP(NM_001261463.1):c.4316G>C (p.(Gly1439Ala), p.(Gly1404Ala)) - NRAP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*16457A>G likely benign r.(=) p.(=) g.115364585A>G - NRAP(NM_001261463.1):c.4010T>C (p.M1337T) - NRAP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*17912C>T VUS r.(=) p.(=) g.115366040C>T - NRAP(NM_001261463.1):c.3704G>A (p.R1235H) - NRAP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*24028G>A benign r.(=) p.(=) g.115372156G>A - NRAP(NM_001261463.1):c.3335C>T (p.A1112V) - NRAP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*26493C>T likely benign r.(=) p.(=) g.115374621C>T - NRAP(NM_001261463.1):c.3163G>A (p.A1055T) - NRAP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*26520C>T VUS r.(=) p.(=) g.115374648C>T - NRAP(NM_001261463.1):c.3136G>A (p.D1046N) - NRAP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*29096T>G likely benign r.(=) p.(=) g.115377224T>G - NRAP(NM_001261463.1):c.2963A>C (p.Q988P) - NRAP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*32291C>T likely benign r.(=) p.(=) g.115380419C>T - NRAP(NM_001261463.1):c.2818G>A (p.A940T) - NRAP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*35200G>C likely benign r.(=) p.(=) g.115383328G>C - NRAP(NM_001261463.1):c.2417C>G (p.T806S) - HABP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*43484G>A likely benign r.(=) p.(=) g.115391612G>A - NRAP(NM_001261463.1):c.1740+4C>T (p.?) - HABP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*53054C>T likely benign r.(=) p.(=) g.115401182C>T - NRAP(NM_001261463.1):c.1265G>A (p.(Gly422Glu), p.(Gly387Glu)) - HABP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*57452G>A likely benign r.(=) p.(=) g.115405580G>A - NRAP(NM_001261463.1):c.1110+4C>T (p.?) - HABP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*57520G>A VUS r.(=) p.(=) g.115405648G>A - NRAP(NM_001261463.1):c.1046C>T (p.S349L) - HABP2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*57583_*57585dup likely benign r.(=) p.(=) g.115405711_115405713dup - NRAP(NM_001261463.1):c.994-4_994-3insTTT (p.?) - NRAP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 2 - c.*57584_*57585dup benign, likely benign r.(=) p.(=) g.115405712_115405713dup - NRAP(NM_001261463.1):c.994-4_994-3insTT (p.?), NRAP(NM_001261463.1):c.994-5_994-4dupTT - HABP2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Leiden
-?/., -/. 3 - c.*57585dup likely benign, benign r.(?) p.(=) g.115405713dup - NRAP(NM_001261463.1):c.994-4dupT, NRAP(NM_001261463.1):c.994-4dupT (p.?) - NRAP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
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