NM_005219.5(DIAPH1):c.3149-15_3149-14insG AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002628335.2
Allele description [Variation Report for NM_005219.5(DIAPH1):c.3149-15_3149-14insG]
NM_005219.5(DIAPH1):c.3149-15_3149-14insG
Condition(s)
-
Reduced phytanic acid oxidase activity in cultured fibroblasts
Reduced phytanic acid oxidase activity in cultured fibroblastsMedGen
-
Protein Links for Gene (Select 414189) (2)
Protein
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Profile neighbors for GEO Profiles (Select 58233087) (3)
GEO Profiles
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"Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic He... (1)
"Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare"[submitter] AND "CLDN14"[gene]SearchClinVar
-
Homo sapiens sperm acrosome associated 9 (SPACA9), transcript variant 3, mRNA
Homo sapiens sperm acrosome associated 9 (SPACA9), transcript variant 3, mRNAgi|1675059309|ref|NM_018956.5|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024