NM_014423.4(AFF4):c.3432A>T (p.Leu1144=) AND Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002971954.2
Allele description [Variation Report for NM_014423.4(AFF4):c.3432A>T (p.Leu1144=)]
NM_014423.4(AFF4):c.3432A>T (p.Leu1144=)
Condition(s)
- Name:
- Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
- Synonyms:
- COGNITIVE IMPAIRMENT, COARSE FACIES, HEART DEFECTS, OBESITY, PULMONARY INVOLVEMENT, SHORT STATURE, AND SKELETAL DYSPLASIA; Chops syndrome
- Identifiers:
- MONDO: MONDO:0014609; MedGen: C4085597; Orphanet: 444077; OMIM: 616368
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PREDICTED: Homo sapiens mitogen-activated protein kinase 14 (MAPK14), transcript...
PREDICTED: Homo sapiens mitogen-activated protein kinase 14 (MAPK14), transcript variant X4, mRNAgi|2217359745|ref|XM_047418234.1|Nucleotide
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Homo sapiens chromosome 1, GRCh38.p14 Primary Assembly
Homo sapiens chromosome 1, GRCh38.p14 Primary Assemblygi|568815597|gnl|ASM:GCF_000001305| |NC_000001.11||gpp|GPC_000001293.1||gnl|NCBI_GENOMES|1Nucleotide
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Nucleotide INSDC for Assembly (Select 12942078) (0)
Nucleotide
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Last Updated: Mar 16, 2024