NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs) AND Nijmegen breakage syndrome-like disorder
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Jan 23, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000781782.5
Allele description [Variation Report for NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs)]
NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs)
Condition(s)
-
Mus musculus ADP-ribosylation-like factor 6 interacting protein 2 (Arl6ip2), mRN...
Mus musculus ADP-ribosylation-like factor 6 interacting protein 2 (Arl6ip2), mRNAgi|30017338|ref|NM_178050.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024