NM_002485.5(NBN):c.2226T>A (p.Asp742Glu) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 19, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001527001.1
Allele description [Variation Report for NM_002485.5(NBN):c.2226T>A (p.Asp742Glu)]
NM_002485.5(NBN):c.2226T>A (p.Asp742Glu)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
neutrophil cytosol factor 1 isoform b [Mus musculus]
neutrophil cytosol factor 1 isoform b [Mus musculus]gi|170172553|ref|NP_035006.3|Protein
-
LOC130067970 [Homo sapiens]
LOC130067970 [Homo sapiens]Gene ID:130067970Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024