NM_002755.4(MAP2K1):c.648C>T (p.Ile216=) AND RASopathy
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- May 9, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000462219.13
Allele description [Variation Report for NM_002755.4(MAP2K1):c.648C>T (p.Ile216=)]
NM_002755.4(MAP2K1):c.648C>T (p.Ile216=)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
-
Mus musculus 7-dehydrocholesterol reductase (Dhcr7), transcript variant 1, mRNA
Mus musculus 7-dehydrocholesterol reductase (Dhcr7), transcript variant 1, mRNAgi|42544247|ref|NM_007856.2|Nucleotide
-
beta xylosidase [Prevotella sp. Sc00026]
beta xylosidase [Prevotella sp. Sc00026]gi|460564995|gb|AGH13981.1|Protein
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Last Updated: Oct 8, 2024