NM_018486.3(HDAC8):c.628+7G>A AND Cornelia de Lange syndrome 5
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003650345.1
Allele description [Variation Report for NM_018486.3(HDAC8):c.628+7G>A]
NM_018486.3(HDAC8):c.628+7G>A
Condition(s)
-
Homo sapiens CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:71195948-7119...
Homo sapiens CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:71195948-71197147 (LOC126862634) on chromosome 17gi|2302518650|ref|NG_087131.1|Nucleotide
-
Genome Links for Protein (Select 530363242) (1)
Genome
-
Homo sapiens
Homo sapiensGenome
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024