NM_148919.4(PSMB8):c.189G>A (p.Arg63=) AND Proteosome-associated autoinflammatory syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 20, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003773859.2
Allele description [Variation Report for NM_148919.4(PSMB8):c.189G>A (p.Arg63=)]
NM_148919.4(PSMB8):c.189G>A (p.Arg63=)
Condition(s)
-
protein LSM14 homolog B isoform X10 [Homo sapiens]
protein LSM14 homolog B isoform X10 [Homo sapiens]gi|2462579649|ref|XP_054179070.1|Protein
-
Microbe sample from Escovopsis sp. ICBGSID712
Microbe sample from Escovopsis sp. ICBGSID712biosample
-
Microbe sample from Escovopsis clavata
Microbe sample from Escovopsis clavatabiosample
-
Homo sapiens SCAF_1103279188360 genomic scaffold, whole genome shotgun sequence
Homo sapiens SCAF_1103279188360 genomic scaffold, whole genome shotgun sequencegi|157399255|gb|DS486059.1||gnl|WGS |SCAF_1103279188360Nucleotide
-
KIRREL1 [Papio anubis]
KIRREL1 [Papio anubis]Gene ID:101020138Gene
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024