NM_005592.4(MUSK):c.721C>T (p.Pro241Ser) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 25, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000704644.7
Allele description [Variation Report for NM_005592.4(MUSK):c.721C>T (p.Pro241Ser)]
NM_005592.4(MUSK):c.721C>T (p.Pro241Ser)
Condition(s)
- Name:
- Fetal akinesia deformation sequence 1 (FADS1)
- Synonyms:
- Pena Shokeir syndrome, type 1; Lethal Pena-Shokeir 1 syndrome; Pena-Shokeir syndrome type I; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0100101; MedGen: C1276035; Orphanet: 994; OMIM: 208150; Human Phenotype Ontology: HP:0001989
-
Mus musculus crystallin, beta A2, mRNA (cDNA clone MGC:66910 IMAGE:6824245), com...
Mus musculus crystallin, beta A2, mRNA (cDNA clone MGC:66910 IMAGE:6824245), complete cdsgi|34784191|gb|BC056989.1|Nucleotide
-
LOC111022205 [Momordica charantia]
LOC111022205 [Momordica charantia]Gene ID:111022205Gene
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Last Updated: Sep 29, 2024