NM_004273.5(CHST3):c.*4495G>A AND Skeletal dysplasia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000339345.5
Allele description [Variation Report for NM_004273.5(CHST3):c.*4495G>A]
NM_004273.5(CHST3):c.*4495G>A
Condition(s)
- Name:
- Skeletal dysplasia
- Synonyms:
- Primary bone dysplasia
- Identifiers:
- MONDO: MONDO:0018230; MedGen: C0410528; Human Phenotype Ontology: HP:0002652
-
cytochrome b (mitochondrion) [Xiphophorus evelynae]
cytochrome b (mitochondrion) [Xiphophorus evelynae]gi|119873700|gb|ABM05592.1|Protein
-
transforming acidic coiled-coil-containing protein 2 isoform X11 [Mus musculus]
transforming acidic coiled-coil-containing protein 2 isoform X11 [Mus musculus]gi|1039779424|ref|XP_017177889.1|Protein
-
cytochrome b, partial (mitochondrion) [Xiphophorus andersi]
cytochrome b, partial (mitochondrion) [Xiphophorus andersi]gi|472578|gb|AAA88803.1|Protein
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Last Updated: Apr 9, 2023