Annotation Detail
Information
- Associated Genes
- SHROOM2 STS CLCN4 ANOS1 MID1 GPR143 TBL1X PUDP PNPLA4 VCX VCX2 VCX3A WWC3 NLGN4X FAM9A FAM9B VCX3B MIR651 CLDN34 MIR4770 MIR4767 LOC101928201 LOC105373156 LOC106029240 LOC106029241 LOC111242786 LOC113875037 LOC113875040 LOC121627957 LOC121627958 LOC121853049 LOC125446266 LOC125446268 LOC125446269 LOC125446270 LOC126863193 LOC126863194 LOC126863195 LOC126863196 LOC126863197 LOC126863198 LOC126863199 LOC126863200 LOC126863201 LOC126863202 LOC126863203 LOC126863204 LOC126863205 LOC126863206 LOC126863207 LOC126863208 LOC129391293 LOC130067906 LOC130067907 LOC130067908 LOC130067909 LOC130067910 LOC130067911 LOC130067912 LOC130067913 LOC130067914 LOC130067915 LOC130067916 LOC130067917 LOC130067918 LOC130067919 LOC130067920 LOC130067921 LOC130067922 LOC130067923 LOC130067924 LOC130067925 LOC130067926 LOC130067927 LOC130067928 LOC130067929 LOC130067930 LOC130067931 LOC130067932 LOC130067933 LOC130067934 LOC130067935 LOC130067936
- Associated Variants
-
GRCh38/hg38 Xp22.32-22.2(chrX:4557134-10838424)x1
GRCh38/hg38 Xp22.32-22.2(chrX:4557134-10838424)x1 - Source Database
- ClinVar
- Description
- GRCh38/hg38 Xp22.32-22.2(chrX:4557134-10838424)x1 AND See cases
- ClinVar Allele ID
- 73807
- 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/RCV000053028
- Observed Origin Sample
- de novo
Drugs