NM_000751.3(CHRND):c.1253-13C>A AND Lethal multiple pterygium syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002637349.2
Allele description [Variation Report for NM_000751.3(CHRND):c.1253-13C>A]
NM_000751.3(CHRND):c.1253-13C>A
Condition(s)
-
Peer Reviewers - Definition of Treatment-Resistant Depression in the Medicare Po...
Peer Reviewers - Definition of Treatment-Resistant Depression in the Medicare Population
-
disrupted in schizophrenia 1 protein isoform i [Homo sapiens]
disrupted in schizophrenia 1 protein isoform i [Homo sapiens]gi|257153476|ref|NP_001158018.1|Protein
-
Cactoideae sequence.
Cactoideae sequence.PopSet: 2287608876PopSet
-
Mus musculus agouti related neuropeptide (Agrp), transcript variant 1, mRNA
Mus musculus agouti related neuropeptide (Agrp), transcript variant 1, mRNAgi|424036677|ref|NM_007427.3|Nucleotide
-
Retinitis pigmentosa 80
Retinitis pigmentosa 80MedGen
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024