NM_002485.5(NBN):c.550G>T (p.Val184Phe) AND Microcephaly, normal intelligence and immunodeficiency
- Germline classification:
- Uncertain significance (3 submissions)
- Last evaluated:
- Jul 21, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000636731.11
Allele description [Variation Report for NM_002485.5(NBN):c.550G>T (p.Val184Phe)]
NM_002485.5(NBN):c.550G>T (p.Val184Phe)
Condition(s)
- Name:
- Microcephaly, normal intelligence and immunodeficiency (NBS)
- Synonyms:
- IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY; SEEMANOVA SYNDROME II; Nijmegen breakage syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009623; MedGen: C0398791; Orphanet: 647; OMIM: 251260
-
tail-specific protease [Chryseobacterium carnipullorum]
tail-specific protease [Chryseobacterium carnipullorum]gi|1519520158|gnl|PRJNA498534|EG346 0|gb|AZA47845.1|Protein
-
LOC4336726 [Oryza sativa Japonica Group]
LOC4336726 [Oryza sativa Japonica Group]Gene ID:4336726Gene
-
txid2446652[Organism:noexp] (1)
Identical Protein Groups
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024