Annotation Detail
Information
- Associated Genes
- ERCC8 PDE4D PLK2 PART1 DEPDC1B ZSWIM6 GPBP1 ELOVL7 NDUFAF2 RAB3C MIER3 GAPT LINC03122 ACTBL2 SMIM15 MIR582 MIR548AE2 LNCBRM LOC101928505 LINC02225 LINC02101 LINC02108 SMIM15-AS1 LOC101928651 RMEL3 ERCC8-AS1 LINC02057 LOC105378997 LOC112997595 LOC112997596 LOC113002585 LOC114004394 LOC123493313 LOC123493314 LOC123493315 LOC123493316 LOC123493317 LOC123493318 LOC123493319 LOC123493320 LOC123493321 LOC123493322 LOC126807393 LOC126807394 LOC126807395 LOC126807396 LOC126807397 LOC126807398 LOC126807399 LOC126807400 LOC126807401 LOC126807402 LOC126807403 LOC126807404 LOC126807405 LOC126807406 LOC126807407 LOC129389285 LOC129389286 LOC129389287 LOC129389288 LOC129389289 LOC129389290 LOC129993924 LOC129993925 LOC129993926 LOC129993927 LOC129993928 LOC129993929 LOC129993930 LOC129993931 LOC129993932 LOC129993933 LOC129993934 LOC129993935 LOC129993936 LOC129993937 LOC129993938 LOC129993939 LOC129993940 LOC129993941 LOC129993942 LOC129993943 LOC129993944 LOC129993945 LOC129993946 LOC129993947 LOC129993948 LOC129993949 LOC129993950 LOC129993951 LOC129993952 LOC129993953 LOC129993954 LOC129993955 LOC129993956 LOC129993957 LOC132089279 LOC132089280 LOC132089281 LOC132089282 LOC132089283 LOC132089284 LOC132089285 LOC132089286 LOC132089287 LOC132089288
- Associated Variants
-
GRCh38/hg38 5q11.2-12.1(chr5:56947850-61725401)x3
GRCh38/hg38 5q11.2-12.1(chr5:56947850-61725401)x3 - Source Database
- ClinVar
- Description
- GRCh38/hg38 5q11.2-12.1(chr5:56947850-61725401)x3 AND See cases
- ClinVar Allele ID
- 154341
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2010-05-30
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000134066
- Observed Origin Sample
- not provided
Drugs