NM_144966.5(FREM1):c.*1737G>C AND Oculotrichoanal syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001168013.13
Allele description [Variation Report for NM_144966.5(FREM1):c.*1737G>C]
NM_144966.5(FREM1):c.*1737G>C
Condition(s)
- Name:
- Oculotrichoanal syndrome (MOTA)
- Synonyms:
- Marles Greenberg Persaud syndrome; Unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies; Marles syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009560; MedGen: C1855425; OMIM: 248450
-
PREDICTED: Arachis hypogaea probable trehalose-phosphate phosphatase 3 (LOC11272...
PREDICTED: Arachis hypogaea probable trehalose-phosphate phosphatase 3 (LOC112726491), transcript variant X1, mRNAgi|1666292993|ref|XM_025775895.2|Nucleotide
-
oq64g02.s1 NCI_CGAP_Kid6 Homo sapiens cDNA clone IMAGE:1591154 3', mRNA sequence
oq64g02.s1 NCI_CGAP_Kid6 Homo sapiens cDNA clone IMAGE:1591154 3', mRNA sequencegi|3154895|gnl|dbEST|1713946|gb|AA9 .1|Nucleotide
-
UI-M-BH3-bsb-a-07-0-UI.s1 NIH_BMAP_M_S4 Mus musculus cDNA clone UI-M-BH3-bsb-a-0...
UI-M-BH3-bsb-a-07-0-UI.s1 NIH_BMAP_M_S4 Mus musculus cDNA clone UI-M-BH3-bsb-a-07-0-UI 3', mRNA sequencegi|14583893|gnl|dbEST|8905798|gb|BI 5.1|Nucleotide
-
Homo sapiens interferon induced transmembrane protein 10 (IFITM10), mRNA
Homo sapiens interferon induced transmembrane protein 10 (IFITM10), mRNAgi|1519311573|ref|NM_001170820.4|Nucleotide
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Last Updated: Oct 8, 2024