NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu) AND Turnpenny-fry syndrome
- Germline classification:
- Pathogenic/Likely pathogenic (4 submissions)
- Last evaluated:
- Jul 16, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000766184.7
Allele description [Variation Report for NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)]
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)
Condition(s)
-
txid679197[Organism:exp] AND "type material"[Attribute Name] (1)
BioSample
-
MIGS Cultured Bacterial/Archaeal sample from Segniliparus rugosus ATCC BAA-974
MIGS Cultured Bacterial/Archaeal sample from Segniliparus rugosus ATCC BAA-974biosample
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See more...Assertion and evidence details
Last Updated: Jun 29, 2024