NM_001034852.3(SMOC1):c.858-19C>A AND Microphthalmia with limb anomalies
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jul 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001808686.2
Allele description [Variation Report for NM_001034852.3(SMOC1):c.858-19C>A]
NM_001034852.3(SMOC1):c.858-19C>A
Condition(s)
- Name:
- Microphthalmia with limb anomalies (MLA)
- Synonyms:
- ANOPHTHALMIA-SYNDACTYLY; Anophthalmos with limb anomalies; Anophthalmia Waardenburg syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008800; MedGen: C0599973; Orphanet: 1106; OMIM: 206920
-
Homo sapiens nerve growth factor receptor (TNFRSF16) associated protein 1 (NGFRA...
Homo sapiens nerve growth factor receptor (TNFRSF16) associated protein 1 (NGFRAP1), transcript variant 1, mRNAgi|46094061|ref|NM_206917.1|Nucleotide
-
Denosumab (Xgeva)
Denosumab (Xgeva)
-
hisG [Methanococcus maripaludis C5]
hisG [Methanococcus maripaludis C5]Gene ID:4929127Gene
-
EFE [Arabidopsis thaliana]
EFE [Arabidopsis thaliana]Gene ID:839345Gene
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Last Updated: Mar 10, 2024