NM_013325.5(ATG4B):c.230G>A (p.Arg77Gln) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004318989.1
Allele description [Variation Report for NM_013325.5(ATG4B):c.230G>A (p.Arg77Gln)]
NM_013325.5(ATG4B):c.230G>A (p.Arg77Gln)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Homo sapiens interleukin 2 receptor, gamma (severe combined immunodeficiency), m...
Homo sapiens interleukin 2 receptor, gamma (severe combined immunodeficiency), mRNA (cDNA clone MGC:23116 IMAGE:4878734), complete cdsgi|15929027|gb|BC014972.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 9, 2024