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)
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txid6239[Organism:noexp] AND (complex_rna[filt]) AND (structure_c... (12)
txid6239[Organism:noexp] AND (complex_rna[filt]) AND (structure_cdd_family_2[filt])SearchStructure
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PREDICTED: Homo sapiens ankyrin repeat and FYVE domain containing 1 (ANKFY1), tr...
PREDICTED: Homo sapiens ankyrin repeat and FYVE domain containing 1 (ANKFY1), transcript variant X3, mRNAgi|2462555828|ref|XM_054316395.1|Nucleotide
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SLC22A18 solute carrier family 22 member 18 [Homo sapiens]
SLC22A18 solute carrier family 22 member 18 [Homo sapiens]Gene ID:5002Gene
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Gene Links for GEO Profiles (Select 14756908) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024