NM_000474.4(TWIST1):c.245GCG[6] (p.Gly86dup) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000951587.8
Allele description [Variation Report for NM_000474.4(TWIST1):c.245GCG[6] (p.Gly86dup)]
NM_000474.4(TWIST1):c.245GCG[6] (p.Gly86dup)
Condition(s)
- Name:
- TWIST1-related craniosynostosis (CRS1)
- Synonyms:
- Craniosynostosis 1
- Identifiers:
- MONDO: MONDO:0007399; MedGen: C4551902; Orphanet: 63440; OMIM: 123100
- Name:
- Saethre-Chotzen syndrome (SCS)
- Synonyms:
- ACS III; Acrocephalo-syndactyly, type 3; Chotzen syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007042; MedGen: C0175699; Orphanet: 794; OMIM: 101400
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LOW QUALITY PROTEIN: mitochondrial carnitine/acylcarnitine carrier protein [Elec...
LOW QUALITY PROTEIN: mitochondrial carnitine/acylcarnitine carrier protein [Electrophorus electricus]gi|1870437117|ref|XP_026874566.2|Protein
-
peptidase S41 [Bacteroides finegoldii DSM 17565]
peptidase S41 [Bacteroides finegoldii DSM 17565]gi|2432794656|dbj|BDW76639.1|Protein
-
LOC101732003 oocyte zinc finger protein XlCOF7.1-like [Xenopus tropicalis]
LOC101732003 oocyte zinc finger protein XlCOF7.1-like [Xenopus tropicalis]Gene ID:101732003Gene
-
terS [Staphylococcus phage phiPVL-CN125]
terS [Staphylococcus phage phiPVL-CN125]Gene ID:7967022Gene
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Last Updated: Oct 13, 2024