NM_002755.4(MAP2K1):c.636C>T (p.Ser212=) AND MAP2K1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004532516.2
Allele description [Variation Report for NM_002755.4(MAP2K1):c.636C>T (p.Ser212=)]
NM_002755.4(MAP2K1):c.636C>T (p.Ser212=)
Condition(s)
- Name:
- MAP2K1-related disorder
- Synonyms:
- MAP2K1-Related Disorders; MAP2K1-related condition
- Identifiers:
-
RecName: Full=Protein BEX1; AltName: Full=Brain-expressed X-linked protein 1
RecName: Full=Protein BEX1; AltName: Full=Brain-expressed X-linked protein 1gi|91208332|sp|Q9HBH7.2|BEX1_HUMANProtein
-
ventral expressed homeobox [Danio rerio]
ventral expressed homeobox [Danio rerio]gi|18859547|ref|NP_571775.1|Protein
-
PREDICTED: transcription factor CYCLOIDEA-like [Nicotiana sylvestris]
PREDICTED: transcription factor CYCLOIDEA-like [Nicotiana sylvestris]gi|698444279|ref|XP_009765933.1|Protein
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Last Updated: Oct 20, 2024