Annotation Detail
Information
- Associated Genes
- CDK4 CYP27B1 DDIT3 B4GALNT1 GLI1 INHBC KIF5A LRP1 MARS1 METTL1 MYO1A NAB2 TSPAN31 SHMT2 STAT6 TAC3 SLC16A7 USP15 TSFM CTDSP2 DCTN2 AVIL OS9 NXPH4 R3HDM2 MON2 NEMP1 EEF1AKMT3 NDUFA4L2 PPM1H ARHGAP9 PIP4K2C INHBE ATP23 MARCHF9 MBD6 ARHGEF25 AGAP2 LRIG3 DTX3 STAC3 LOC283387 LINC01465 TAFA2 MIRLET7I MIR26A2 MIR616 AGAP2-AS1 MIR1228 GIHCG LOC100506869 LOC101927583 LOC101927608 LINC02388 MIR6125 MIR6758 MIR6759 LOC105369783 LINC02403 LRIG3-DT LINC02448 LRP1-AS LOC110121363 LOC110121374 LOC112163615 LOC112163617 LOC112163618 LOC112163619 LOC112163628 LOC112163629 R3HDM2-DT MIRLET7IHG LOC121466703 LOC121466704 LOC121466705 LOC121832837 LOC121832838 LOC121832839 LOC124629377 LOC124629378 LOC124629379 LOC124629386 LOC124629388 LOC124629389 LOC124629390 LOC126861538 LOC126861539 LOC126861540 LOC126861541 LOC126861542 LOC126861543 LOC126861544 LOC126861545 LOC126861546 LOC126861547 LOC126861548 LOC126861549 LOC126861550 LOC126861551 LOC126861552 LOC126861553 LOC128125814 MON2-AS1 LOC129390466 LOC129390467 LOC129390468 LOC130008108 LOC130008109 LOC130008110 LOC130008111 LOC130008112 LOC130008113 LOC130008114 LOC130008115 LOC130008116 LOC130008117 LOC130008118 LOC130008119 LOC130008120 LOC130008121 LOC130008122 LOC130008123 LOC130008124 LOC130008125 LOC130008126 LOC130008127 LOC130008128 LOC130008129 LOC130008130 LOC130008131 LOC130008132 LOC130008133 LOC130008134 LOC130008135 LOC130008136 LOC130008137 LOC130008138 LOC130008139 LOC130008140 LOC130008141 LOC130008142 LOC130008143 LOC130008144 LOC130008145 LOC130008146 LOC130008147 LOC130008148 LOC130008149 LOC130008150 LOC130008151 LOC130008152 LOC130008153 LOC130008154 LOC130008155 LOC130008156 LOC130008157 LOC130008158 LOC130008159 LOC130008160 LOC130008161 LOC130008162 LOC130008163 LOC130008164 LOC130008165 LOC130008166 LOC130008167 LOC130008168 LOC130008169 LOC130008170 LOC130008171 LOC130008172 LOC130008173 LOC130008174 LOC130008175 LOC130008176 LOC130008177 LOC130008178 LOC130008179 LOC130008180 LOC130008181 LOC130008182 LOC130008183 LOC130008184 LOC130008185 LOC130008186 LOC130008187 LOC130008188 LOC130008189 LOC130008190 LOC130008191 LOC132090129 LOC132090130 LOC132090131 LOC132090132 LOC132090133 LOC132090134 LOC132090135 LOC132090136 LOC132090137 LOC132090138 LOC132090139
- Associated Variants
-
GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1
GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1 - Source Database
- ClinVar
- Description
- GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1 AND See cases
- ClinVar Allele ID
- 73614
- 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/RCV000052813
- Observed Origin Sample
- de novo
Drugs