NM_001080483.3(MYMK):c.535G>A (p.Val179Ile) AND Congenital nonprogressive myopathy with Moebius and Robin sequences
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 16, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001332769.1
Allele description [Variation Report for NM_001080483.3(MYMK):c.535G>A (p.Val179Ile)]
NM_001080483.3(MYMK):c.535G>A (p.Val179Ile)
Condition(s)
- Name:
- Congenital nonprogressive myopathy with Moebius and Robin sequences
- Synonyms:
- CFZ syndrome; Moebius sequence, Robin complex, and hypotonia; Congenital nonprogressive myopathy with Moebius and Robin sequence; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0031415; MedGen: C1850746; Orphanet: 1358; OMIM: PS254940
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PREDICTED: Mus musculus ankyrin repeat and death domain containing 1B (Ankdd1b),...
PREDICTED: Mus musculus ankyrin repeat and death domain containing 1B (Ankdd1b), transcript variant X5, mRNAgi|1720375340|ref|XM_006517685.3|Nucleotide
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c1galt1lb [Takifugu flavidus]
c1galt1lb [Takifugu flavidus]Gene ID:130524071Gene
-
chlN [Oltmannsiellopsis viridis]
chlN [Oltmannsiellopsis viridis]Gene ID:4100152Gene
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See more...Assertion and evidence details
Last Updated: Jun 3, 2023