NM_030973.4(MED25):c.556C>T (p.Arg186Trp) AND Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 14, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000758140.1
Allele description [Variation Report for NM_030973.4(MED25):c.556C>T (p.Arg186Trp)]
NM_030973.4(MED25):c.556C>T (p.Arg186Trp)
Condition(s)
-
diphthine methyltransferase isoform X5 [Mus musculus]
diphthine methyltransferase isoform X5 [Mus musculus]gi|1720400350|ref|XP_030107844.1|Protein
-
diphthine methyltransferase isoform b [Mus musculus]
diphthine methyltransferase isoform b [Mus musculus]gi|1243938437|ref|NP_001342483.1|Protein
-
Rattus norvegicus transmembrane protein 150B (Tmem150b), mRNA
Rattus norvegicus transmembrane protein 150B (Tmem150b), mRNAgi|157818984|ref|NM_001107476.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024