NM_003106.4(SOX2):c.100C>T (p.Gln34Ter) AND Anophthalmia/microphthalmia-esophageal atresia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 3, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001195766.2
Allele description [Variation Report for NM_003106.4(SOX2):c.100C>T (p.Gln34Ter)]
NM_003106.4(SOX2):c.100C>T (p.Gln34Ter)
Condition(s)
- Name:
- Anophthalmia/microphthalmia-esophageal atresia syndrome (MCOPS3)
- Synonyms:
- Microphthalmia syndromic 3; Microphthalmia and esophageal atresia syndrome; Anophthalmia clinical with associated anomalies; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008799; MedGen: C1859773; Orphanet: 77298; OMIM: 206900
-
groundwater metagenome
groundwater metagenomeMicrobial carbon sequestration in a subsurface aquifer contaminated by geologic CO2BioProject
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BioProject Links for Nucleotide (Select 1101081927) (1)
BioProject
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unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]gi|45503812|emb|CAF86920.1|Protein
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Protein Links for PopSet (Select 2650726128) (24)
Protein
-
RPB1, partial [[Candida] auris]
RPB1, partial [[Candida] auris]gi|1573756776|gb|QBC74759.1|Protein
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Last Updated: Mar 26, 2023