Annotation Detail

Information
Associated Genes
ALOX12B ALOX15B ATP1B2 CD68 CHD3 EFNB3 EIF4A1 GUCY2D PER1 PFAS POLR2A RPL26 SHBG SOX15 VAMP2 TP53 TRG-GCC2-6 TRK-TTT3-5 TRL-TAG1-1 TRQ-CTG1-5 TRR-TCT2-1 TNFSF13 TNFSF12 KCNAB3 AURKB FXR2 MPDU1 ARHGEF15 KDM6B SENP3 SNORA67 RANGRF BORCS6 WRAP53 ZBTB4 TRAPPC1 ALOXE3 CTC1 NDEL1 TMEM107 NAA38 HES7 TMEM88 SAT2 CNTROB CYB5D1 KRBA2 DNAH2 ODF4 RNF227 LINC00324 SLC25A35 TNFSF12-TNFSF13 SLC35G6 RNF222 SNORA48 SNORD10 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 SENP3-EIF4A1 MIR4521 MPDU1-AS1 MIR6883 LOC105371520 LOC106794092 LOC111828490 LOC112533665 LOC112533683 LOC116276454 LOC121587574 LOC121587575 LOC124904106 LOC126862481 LOC126862482 LOC126862483 LOC126862484 LOC126862485 LOC129390831 LOC129390832 LOC130060148 LOC130060149 LOC130060150 LOC130060151 LOC130060152 LOC130060153 LOC130060154 LOC130060155 LOC130060156 LOC130060157 LOC130060158 LOC130060159 LOC130060160 LOC130060161 LOC130060162 LOC130060163 LOC130060164 LOC130060165 LOC130060166 LOC130060167 LOC130060168 LOC130060169 LOC130060170 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
GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1
GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1
Source Database
ClinVar
Description
GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1 AND See cases
ClinVar Allele ID
74178
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2011-08-12
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000053426
Observed Origin Sample
not provided
Drugs