NM_001625.4(AK2):c.498_499dup (p.Ile167fs) AND Severe combined immunodeficiency disease
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001825068.1
Allele description [Variation Report for NM_001625.4(AK2):c.498_499dup (p.Ile167fs)]
NM_001625.4(AK2):c.498_499dup (p.Ile167fs)
Condition(s)
- Name:
- Severe combined immunodeficiency disease (SCID)
- Synonyms:
- Severe combined immunodeficiency; Bubble boy disease; Severe Combined Immune Deficiency
- Identifiers:
- MONDO: MONDO:0015974; MeSH: D016511; MedGen: C0085110; Human Phenotype Ontology: HP:0004430
-
MAG: Thiotrichales bacterium SG8_50 WOR_8-12_1065, whole genome shotgun sequence
MAG: Thiotrichales bacterium SG8_50 WOR_8-12_1065, whole genome shotgun sequencegi|931474905|gb|LJTW01000009.1||gnl LJTW01|WOR_8-12_1065Nucleotide
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Last Updated: Dec 24, 2023