Information on RAD50
Basic details
Alt. symbols: hRad50 | RAD50-2
Approved name: RAD50 double strand break repair protein
Alt. names: RAD50 (S. cerevisiae) homolog, RAD50 homolog (S. cerevisiae), RAD50 homolog, double strand break repair protein
Location: 5q31.1: 132556019 - 132646349 (+)
Gene type: protein_coding, 16 transcripts.
Scores: LoFtool: 0.987000 | pLI: 0.00000000 | LOEUF: 0.873
Normal function
Dysfunction and disease
Nijmegen breakage syndrome-like disorder [MIM:613078]. Mutations in RAD50 have been associated to increased risk of breast cancer and with NIJMEGEN BREAKAGE SYNDROME-like disorders. [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
NBSLD |
Nijmegen breakage syndrome-like disorder | AD |
613078 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of RAD50
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000378823.8 | 1 | CCDS34233 | Select | protein_coding | 25 | Yes | 8272 | NM_005732 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in RAD50
| ID | Year | Title | Journal | PMID | Variants |
|---|