Annotation Detail
Information
- Associated Genes
- ADCYAP1 CETN1 TYMS YES1 USP14 THOC1 CLUL1 ENOSF1 LINC00470 COLEC12 TUBB8B LINC01904 TYMSOS MIR8078 LINC02564 LINC01925 LOC112538442 LOC112543431 LOC112543438 LOC125338459 LOC125338460 LOC125338461 LOC126862675 LOC126862676 LOC126862677 LOC129390951 LOC129390952 LOC130062069 LOC130062070 LOC130062071 LOC130062072 LOC130062073 LOC130062074 LOC130062075 LOC130062076 LOC130062077 LOC130062078 LOC130062079
- Associated Variants
- NC_000018.10:g.(?_10000)_(1543845_?)del AND Autism ( ENST00000579794.1, ENST00000327228.5, ENST00000323274.15, ENST00000584307.5, ENST00000261601.8, ENST00000261600.11, ENST00000540035.5, ENST00000340116.12, ENST00000400256.5, ENST00000308911.9 )
- Associated Disease
- Autism
- Source Database
- ClinVar
- Description
- NC_000018.10:g.(?_10000)_(1543845_?)del AND Autism
- ClinVar Allele ID
- 535487
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2018-03-20
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000754207
- ClinVar Disease
- Autism
- Observed Origin Sample
- germline
Drugs