NM_002755.4(MAP2K1):c.137A>T (p.Gln46Leu) AND Cardio-facio-cutaneous syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000824934.1
Allele description [Variation Report for NM_002755.4(MAP2K1):c.137A>T (p.Gln46Leu)]
NM_002755.4(MAP2K1):c.137A>T (p.Gln46Leu)
Condition(s)
Assertion and evidence details
Last Updated: Sep 3, 2022