Annotation Detail

Information
Associated Genes
CRISP1 GCLC GSTA1 GSTA2 GSTA3 GSTA4 HCRTR2 IL17A MCM3 MMUT PGK2 PKHD1 RHAG TFAP2B CRISP2 GCM1 TRAM2 CRISP3 CILK1 FBXO9 TINAG TMEM14A HMGCLL1 CENPQ LRRC1 ELOVL5 TFAP2D PAQR8 MLIP IL17F EFHC1 RN7SK C6orf141 GSTA5 FAM83B DEFB110 DEFB112 DEFB113 DEFB114 GLYATL3 GFRAL KLHL31 MIR206 MIR133B LOC101927189
Associated Variants
GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1
Source Database
ClinVar
Description
GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1 AND See cases
ClinVar Allele ID
971262
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2019-12-12
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001263045
Observed Origin Sample
unknown
Drugs