Annotation Detail

Information
Associated Genes
ALOX12B ALOX15B CHD3 EFNB3 GUCY2D PER1 PFAS RPL26 VAMP2 TP53 TRG-GCC2-6 TRK-TTT3-5 TRL-TAG1-1 TRQ-CTG1-5 TRR-TCT2-1 KCNAB3 AURKB ARHGEF15 KDM6B RANGRF BORCS6 WRAP53 TRAPPC1 ALOXE3 CTC1 TMEM107 NAA38 HES7 TMEM88 CNTROB CYB5D1 KRBA2 DNAH2 ODF4 RNF227 LINC00324 SLC25A35 SCARNA21 SNORD118 LOC100128288 TRS-CGA1-1 TRW-CCA3-3 TRW-CCA1-1 TRP-CGG1-3 TRS-AGA2-6 TRT-AGT1-1 TRG-TCC3-1 TRT-AGT1-2 TRS-GCT4-3 TRD-GTC2-11 TRI-AAT5-5 TRI-AAT4-1 TRT-AGT5-1 MIR4314 MIR4521 MIR6883 LOC105371520 LOC106794092 LOC112533665 LOC116276454 LOC121587574 LOC121587575 LOC124904106 LOC126862483 LOC126862484 LOC126862485 LOC129390832 LOC130060171 LOC130060172 LOC130060173 LOC130060174 LOC130060175 LOC130060176 LOC130060177 LOC130060178 LOC130060179 LOC130060180 LOC130060181 LOC130060182 LOC130060183 LOC130060184 LOC130060185 LOC130060186 LOC130060187 LOC130060188 LOC130060189 LOC130060190 LOC130060191 LOC130060192 LOC130060193 LOC130060194 LOC130060195 LOC130060196 LOC130060197 LOC130060198 LOC130060199 LOC130060200 LOC130060201 LOC130060202 LOC130060203 LOC130060204 LOC130060205 LOC130060206 LOC130060207 LOC130060208 LOC130060209 LOC130060210 LOC130060211 LOC130060212 LOC130060213 LOC130060214 LOC130060215 LOC130060216 LOC130060217 LOC130060218 LOC130060219 LOC130060220 LOC130060221 LOC130060222 LOC130060223 LOC130060224 LOC130060225 LOC130060226 LOC130060227 LOC130060228 LOC130060229 LOC130060230 LOC130060231 LOC130060232 LOC130060233 LOC130060234 LOC130060235 LOC130060236 LOC130060237 LOC130060238 LOC130060239 LOC130060240 LOC130060241 LOC130060242 LOC130060243 LOC130060244 LOC130060245 LOC130060246
Associated Variants
NC_000017.11:g.(?_7669599)_(8382320_?)del AND Li-Fraumeni syndrome
NC_000017.11:g.(?_7669599)_(8382320_?)del AND Li-Fraumeni syndrome
Associated Disease
Li-Fraumeni syndrome
Source Database
ClinVar
Description
NC_000017.11:g.(?_7669599)_(8382320_?)del AND Li-Fraumeni syndrome
ClinVar Allele ID
652679
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2020-01-22
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000803922
ClinVar Disease
Li-Fraumeni syndrome
Observed Origin Sample
germline
Drugs