about
P2670
loss of heterozygositymissense variantR132Protein Altering VariantLoss Of Function VariantExon VariantInframe InsertionFrameshift TruncationInframe DeletionGain Of Function VariantCoding Sequence VariantStop GainedGene VariantExon Loss Varianttranscript fusionFrameshift VariantPolymorphic Sequence Variantsingle-nucleotide polymorphism
P279
MGMT PROMOTER METHYLATIONCDKN2A p16 EXPRESSIONCDK4 EXPRESSIONCDKN2A PROMOTER HYPERMETHYLATIONCCND2 PROMOTER DEMETHYLATIONCCND1 OVEREXPRESSIONATM UNDEREXPRESSIONTP53 DELETERIOUS MUTATIONEGFR AUTOCRINE ACTIVATIONDKK1 NUCLEAR EXPRESSIONCD44 ISOFORM EXPRESSIONCDKN1B CYTOPLASMIC MISLOCALIZATIONAR SPLICE VARIANT 7ERBB4 NUCLEAR TRANSLOCATIONPRKAA2 T172 PHOSPHORYLATIONEIF4EBP1 PHOSPHORYLATIONEGFR Y1092 PHOSPHORYLATIONERBB2 SERUM LEVELSFGF13 CYTOPLASMIC EXPRESSIONDNMT3A P904LSULT1E1 SNPMLH1 METHYLATIONJAK2 Exon 12 splice site insertionBRAF G596CBRD4 BRD4-NUTM1TYMS RS34743033CHEK2 IVS2+1G>ARUNX1 R135FSX177ETV6 R399CETV6 R369QETV6 P214LEGFR 3' UTR MUTATIONCCND1 EXPRESSIONCCND2 OVEREXPRESSIONCCNE1 OVEREXPRESSIONGATA2 EXPRESSIONBCL2 EXPRESSIONIGF2 OVEREXPRESSIONAURKA EXPRESSIONAPC MUTATION
P31
Q2617554-7E71963E-DAC7-4F8B-A35D-76CA52CEB7F6Q27429979-6f3f11d3-492e-14cb-d490-23c186bb2b8aQ27830955-d19e6d26-41b1-bb65-e377-635370e312f3Q27907087-12fc59cb-460e-2de5-7915-c74ac95cdfb3Q27907094-4a3fbb63-4a7c-4f1b-b8fe-3bf5972b93c8Q27908063-ead1822d-4833-4e82-e638-d950b31d1f5cQ27908066-33077a9c-4f25-4e9f-7024-a9f45ca8689dQ28371705-06fed55d-4224-07d0-f738-2c43b08166f6Q28371783-8abfd0bb-4bce-6fb8-8faa-b2eea048faf3Q28371786-a9c4ea1f-4a54-d80d-a81c-47ca6b116a7eQ28371787-A0CC183B-FB99-4E86-A8B3-000482A16B6EQ28371788-2C8A3364-1737-4577-8174-89FF0A752C28Q28381983-82f81a2b-422e-0de9-e57a-609fe0e9bf20Q28419122-c2809baf-493a-0efd-0b60-3a71b69ded64Q28419128-6918e0e8-40f2-ca6c-2636-1bf425020020Q28419131-dd4f4130-4fdb-fd6a-521c-0d35e8ac4e11Q28419136-c3e3ee68-435e-3dea-dfa1-549c4d04aa09Q501128-41c4b322-4eb3-23dc-ca4e-b472353b6054
P279
Q27908358-705520C8-970A-4DE2-8BB3-BEE6AA948EF2Q27908369-7CC85029-F886-4528-B4AF-DB952C7FA64AQ27925125-5C37DD1C-A720-45CD-937D-851BB00ED427Q27925513-E2C14A36-73E3-41A7-8020-E4179B3D9C8DQ28045567-898D7F58-BFDA-4986-B5EC-ADD761D8A090Q28370964-665997C5-BF01-47CC-AD7C-F836007CDC81Q28371091-99D404AD-F50B-456D-AF8C-24B1FF1403FDQ28371191-5155B722-E456-48E2-BC9C-04C7A3A267BCQ28371263-61B1630C-94CB-4A1E-815F-8DC46777AE49Q28371292-D5BC6487-2659-4180-9971-5C1C44B5F146Q28371294-D4D77910-2AA9-48EA-B258-65709EBF1B79Q28371317-745C015E-759A-4445-BAF4-F49A0014B2CDQ28371319-401CA952-D26C-48BA-8A06-E4E9F16B0810Q28371321-DBB0424C-5808-4326-89A1-D2F071EBC251Q28371346-FA163449-6F22-433C-824C-D145DAA8B741Q28371349-2EB0F9F3-3266-445D-874D-E0BFAF991A13Q28371351-C33C5AE1-BCD8-4814-8970-8752AD1E4DB5Q28371380-BA04FBDF-31A9-4937-80A6-F403A64315F0Q28371409-792FE490-6DE5-43F2-B39A-F82958FCABBFQ28371440-D035EEF3-14F3-4FB2-A617-E5233D9CC2CEQ28371492-5C95F119-6441-43CA-AE67-291C511D4998Q28371494-351D481E-472C-43C8-96A5-7AB39350E1F3Q28371568-87FABE1F-97CD-480B-A41A-04734EAF8F68Q28371613-828FA7B5-A782-4D75-8B43-AA3AFD434B13Q28371637-91C825BD-61F9-4626-97E1-BBFE387DD425Q28371657-D835FB87-6C25-46EA-9C9C-8A8694017CD9Q28371666-52119815-211B-4CC5-A2B3-0A0C6DC60BF5Q28371677-BFF56047-1378-4260-9941-74207E5576B3Q28371683-74821D39-71BB-4B81-8BEA-A2E2066E6E85Q28371685-BC61D342-CD6E-4A0D-8A93-AFA277E59247Q28371687-2FA6DF2A-32F9-4ED1-BD34-69C3ED9CD558Q28420728-DBC80A3F-144F-4C07-A68D-2E78CB2FD1EDQ28444927-1398A036-F5DE-40C7-93E7-D8C730CE791CQ28444928-9553D392-D2FE-4F4C-9FE8-3BDC3F57FBEDQ28444929-27F88DB7-3DDE-4BF0-9FC9-6BE0C93A7188Q28444931-D851DDF8-084B-4061-9E5E-C41CA72815E6Q28444940-110B3D4B-6151-4365-BD40-5E76D73B3268Q28444944-B3890958-5537-473E-B7F5-457F35299529Q28444946-5D0AD6AF-00EA-4F84-AF03-627F40419A74Q28444952-84611053-3F9F-4F72-91D2-4280D9634F2D
P31
description
copie non exacte d'une séquenc ...... sieurs altérations de séquence
@fr
còpia no exacta d'una caracter ...... és alteracions en la sequència
@ca
non-exact copy of a sequence f ...... e or more sequence alterations
@en
name
sekvensvariant
@nn
sequence variant
@en
sequentievariant
@nl
variant de sequència
@ca
variante de secuencia
@es
variante de séquence
@fr
варыянт пасьлядоўнасьці
@be-tarask
type
label
sekvensvariant
@nn
sequence variant
@en
sequentievariant
@nl
variant de sequència
@ca
variante de secuencia
@es
variante de séquence
@fr
варыянт пасьлядоўнасьці
@be-tarask
altLabel
genetic variant
@en
variant genètica
@ca
variant
@ca
variant
@en
variant
@nn
variante genética
@es
variante génétique
@fr
variante
@fr
prefLabel
sekvensvariant
@nn
sequence variant
@en
sequentievariant
@nl
variant de sequència
@ca
variante de secuencia
@es
variante de séquence
@fr
варыянт пасьлядоўнасьці
@be-tarask
P279
P2888
P3986
SO:0001060