NM_015316.3(PPP1R13B):c.1111A>C (p.Ser371Arg) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004342042.1
Allele description [Variation Report for NM_015316.3(PPP1R13B):c.1111A>C (p.Ser371Arg)]
NM_015316.3(PPP1R13B):c.1111A>C (p.Ser371Arg)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
LOC130063166 [Homo sapiens]
LOC130063166 [Homo sapiens]Gene ID:130063166Gene
-
LOC129391032 [Homo sapiens]
LOC129391032 [Homo sapiens]Gene ID:129391032Gene
-
Chain G, Hemoglobin subunit alpha
Chain G, Hemoglobin subunit alphagi|1811121027|pdb|6LCX|GProtein
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024