Annotation Detail

Information
Associated Genes
CD22 CEBPA CEBPG GPI FFAR1 FFAR3 GPR42 HPN LRP3 MAG PEPD FXYD1 FXYD3 SCN1B USF2 PDCD5 GARRE1 UBA2 SLC7A9 ZNF507 LSM14A LSR FXYD7 FXYD5 GPATCH1 ZNF302 SLC7A10 GRAMD1A HAMP CHST8 KCTD15 CEBPA-DT ANKRD27 PDCD2L CEP89 RHPN2 ZNF30 FAAP24 TDRD12 WDR88 WTIP ZNF792 DPY19L3 ZNF599 FAM187B LGI4 SCGB2B2 ZNF181 RGS9BP NUDT19 DPY19L3-DT LINC01801 HPN-AS1 LINC01531 TRT-AGT1-3 LINC03103 LINC00904 LINC01838 MIR5196 LINC01533 LINC01782 MIR6887 ZNF30-AS1 LINC02841 SNORA68B LOC110120890 LOC111365151 LOC111365153 LOC111413028 LOC112543484 LOC116276513 NUDT19-DT SUNO1 LOC121627869 LOC121627870 LOC121852986 LINC02965 LOC125371506 LOC125371507 LINC03049 LOC126862890 LOC126862891 LOC126862892 LOC126862893 LOC126862894 LOC126862895 LOC129391092 LOC129391093 LOC129391094 LOC129391095 LOC129391096 LOC130064151 LOC130064152 LOC130064153 LOC130064154 LOC130064155 LOC130064156 LOC130064157 LOC130064158 LOC130064159 LOC130064160 LOC130064161 LOC130064162 LOC130064163 LOC130064164 LOC130064165 LOC130064166 LOC130064167 LOC130064168 LOC130064169 LOC130064170 LOC130064171 LOC130064172 LOC130064173 LOC130064174 LOC130064175 LOC130064176 LOC130064177 LOC130064178 LOC130064179 LOC130064180 LOC130064181 LOC130064182 LOC130064183 LOC130064184 LOC130064185 LOC130064186 LOC130064187 LOC130064188 LOC130064189 LOC130064190 LOC130064191 LOC130064192 LOC130064193 LOC130064194 LOC130064195 LOC130064196 LOC130064197 LOC130064198 LOC130064199 LOC130064200 LOC130064201 LOC130064202 LOC130064203 LOC130064204 LOC130064205 LOC130064206 LOC130064207 LOC130064208 LOC130064209 LOC130064210 LOC130064211 LOC130064212 LOC130064213 LOC130064214 LOC130064215 LOC130064216 LOC130064217 LOC130064218 LOC130064219 LOC130064220 LOC130064221 LOC130064222 LOC130064223 LOC130064224 LOC130064225 LOC130064226 LOC130064227 LOC130064228 LOC130064229 LOC130064230 LOC130064231 LOC130064232 LOC130064233 LOC130064234 LOC130064235 LOC132090537 LOC132090538 LOC132090539 LOC132090540 LOC132090541 LOC132090542 LOC132090543 LOC132090544 LOC132090545 LOC132090546 LOC132090547 LOC132090548 LOC132090549 LOC132090550 LOC132090905 LOC132090906 LOC132090907 LOC132090908 LOC132090909
Associated Variants
GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1
GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1
Source Database
ClinVar
Description
GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1 AND See cases
ClinVar Allele ID
163250
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2013-06-25
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000141865
Observed Origin Sample
not provided
Drugs