NM_033163.5(FGF8):c.157-1G>A AND Holoprosencephaly sequence
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 19, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000656364.1
Allele description [Variation Report for NM_033163.5(FGF8):c.157-1G>A]
NM_033163.5(FGF8):c.157-1G>A
Condition(s)
- Name:
- Holoprosencephaly sequence (HPE)
- Synonyms:
- ARHINENCEPHALY; HOLOPROSENCEPHALY, FAMILIAL ALOBAR; HPE, FAMILIAL; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0016296; MedGen: C0079541; Orphanet: 2162; OMIM: PS236100; Human Phenotype Ontology: HP:0001360
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Mus musculus plexin B2 (Plxnb2), transcript variant 1, mRNA
Mus musculus plexin B2 (Plxnb2), transcript variant 1, mRNAgi|2439300164|ref|NM_001159521.3|Nucleotide
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Sperm acrosome associated 1 [Mus musculus]
Sperm acrosome associated 1 [Mus musculus]gi|187955114|gb|AAI47081.1|Protein
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ankyrin repeat BTB/POZ domain-containing protein [Arabidopsis thaliana]
ankyrin repeat BTB/POZ domain-containing protein [Arabidopsis thaliana]gi|56849532|gb|AAW31628.1|Protein
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rhomboid-like protein 11, chloroplastic isoform X1 [Morus notabilis]
rhomboid-like protein 11, chloroplastic isoform X1 [Morus notabilis]gi|703148897|ref|XP_010109463.1|Protein
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Profile neighbors for GEO Profiles (Select 103814448) (110)
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Last Updated: Jun 10, 2023