Annotation Detail
Information
- Associated Genes
- CGA CNR1 GABRR1 GABRR2 HTR1E NT5E MAP3K7 RNGTT CASP8AP2 SYNCRIP SLC35A1 PNRC1 ANKRD6 ZNF292 MDN1 ORC3 SNORD50A UBE2J1 AKIRIN2 RARS2 SMIM8 LYRM2 SNX14 RRAGD BACH2 LINC01590 SPACA1 GJA10 PM20D2 SRSF12 CFAP206 C6orf163 GJB7 SNHG5 SNORD50B MIR4464 LINC02535 LOC101928911 LOC101928936 MDN1-AS1 LOC108348029 LOC111413030 LOC113175020 LOC116183066 PNRC1-DT LOC121132697 LOC121132698 LOC121132699 LOC121132700 LOC121740658 LOC123775382 LOC123775383 LOC123775384 LOC126859728 LOC126859729 LOC126859730 LOC126859731 LOC126859732 LOC126859733 LOC126859734 LOC126859735 LOC126859736 LOC126859737 LOC126859738 LOC126859739 LOC126859740 LOC126859741 LOC126859742 LOC126859743 LOC128772296 LOC128772297 LOC128772298 LOC128772299 LOC128772300 LOC128772301 LOC128772302 LOC128772303 LOC129389570 LOC129389571 LOC129389572 LOC129389573 LOC129389574 LOC129389575 LOC129389576 LOC129389577 LOC129389578 LOC129389579 LOC129389580 LOC129389581 LOC129996774 LOC129996775 LOC129996776 LOC129996777 LOC129996778 LOC129996779 LOC129996780 LOC129996781 LOC129996782 LOC129996783 LOC129996784 LOC129996785 LOC129996786 LOC129996787 LOC129996788 LOC129996789 LOC129996790 LOC129996791 LOC129996792 LOC129996793 LOC129996794 LOC129996795 LOC129996796 LOC129996797 LOC129996798 LOC129996799 LOC129996800 LOC129996801 LOC129996802 LOC129996803 LOC129996804 LOC129996805 LOC129996806 LOC129996807 LOC129996808 LOC129996809 LOC129996810 LOC129996811 LOC129996812 LOC129996813 LOC129996814 LOC129996815 LOC129996816 LOC129996817 LOC129996818 LOC129996819 LOC129996820 LOC129996821 LOC129996822 LOC129996823 LOC129996824 LOC129996825 LOC129996826 LOC129996827 LOC129996828 LOC129996829 LOC129996830 LOC129996831 LOC129996832 LOC129996833 LOC129996834 LOC129996835 LOC129996836 LOC129996837 LOC129996838 LOC129996839 LOC129996840 LOC129996841 LOC129996842 LOC129996843
- Associated Variants
-
GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1
GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1 - Source Database
- ClinVar
- Description
- GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1 AND See cases
- ClinVar Allele ID
- 157341
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2010-01-30
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000136757
- Observed Origin Sample
- de novo
Drugs