NM_001005242.3(PKP2):c.302G>A (p.Arg101His) AND not specified
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Sep 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000038217.8
Allele description [Variation Report for NM_001005242.3(PKP2):c.302G>A (p.Arg101His)]
NM_001005242.3(PKP2):c.302G>A (p.Arg101His)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
signal recognition particle receptor subunit alpha isoform X2 [Homo sapiens]
signal recognition particle receptor subunit alpha isoform X2 [Homo sapiens]gi|1034575060|ref|XP_016873668.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024