Annotation Detail

Information
Associated Genes
ACAA1 ACVR2B ENTPD3 CCR4 CCR8 CTNNB1 CX3CR1 GLB1 GOLGA4 ITGA9 RPSA MLH1 MOBP MYD88 PLCD1 RAB5A RARB SNORA62 RPL15 SATB1 SCN5A SCN10A STAC TGFBR2 THRB TOP2B UBE2E1 UBE2E2 UBP1 EOMES KAT2B RPL14 LRRFIP2 SLC22A14 SLC22A13 SLC4A7 TBC1D5 EPM2AIP1 TRANK1 DLEC1 EXOG XYLB OXSR1 NR1D2 PDCD6IP CTDSPL EIF1B CRTAP ARPP21 SCN11A CLASP2 GPD1L PLCL2 FBXL2 CNOT10 MYRIP SUSD5 RBMS3 NKIRAS1 VILL DYNC1LI1 CMTM6 SLC25A38 OXSM NGLY1 WDR48 AZI2 CSRNP1 GORASP1 ZNF385D DCLK3 CMTM7 OSBPL10 LRRC3B KCNH8 TRIM71 SGO1 PP2D1 EFHB ZCWPW2 CMC1 NEK10 CMTM8 XIRP1 TTC21A STT3B ZNF620 ZNF619 ZNF621 APRG1 GADL1 ZNF860 MIR128-2 MIR26A1 TMPPE
Associated Variants
NC_000003.11:g.(?_16710965)_(41275270_?)del AND not provided
Associated Disease
not provided
Source Database
ClinVar
Description
NC_000003.11:g.(?_16710965)_(41275270_?)del AND not provided
ClinVar Allele ID
1464642
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2021-05-05
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001958625
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs