NM_001110792.2(MECP2):c.578C>T (p.Ala193Val) AND Autism, susceptibility to, X-linked 3
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 20, 2002
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000133156.2
Allele description [Variation Report for NM_001110792.2(MECP2):c.578C>T (p.Ala193Val)]
NM_001110792.2(MECP2):c.578C>T (p.Ala193Val)
Condition(s)
-
Homo sapiens ring finger protein 4 (RNF4), transcript variant 2, mRNA
Homo sapiens ring finger protein 4 (RNF4), transcript variant 2, mRNAgi|1519316298|ref|NM_002938.5|Nucleotide
-
MARVEL domain-containing protein 2 isoform 1 [Homo sapiens]
MARVEL domain-containing protein 2 isoform 1 [Homo sapiens]gi|289666784|ref|NP_001033692.2|Protein
-
YPEL5 yippee like 5 [Homo sapiens]
YPEL5 yippee like 5 [Homo sapiens]Gene ID:51646Gene
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See more...Assertion and evidence details
Last Updated: Apr 15, 2024
PubMed [ID: 12384770]