NM_001202.6(BMP4):c.262C>T (p.Arg88Trp) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 28, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003801111.1
Allele description [Variation Report for NM_001202.6(BMP4):c.262C>T (p.Arg88Trp)]
NM_001202.6(BMP4):c.262C>T (p.Arg88Trp)
Condition(s)
- Name:
- Microphthalmia with brain and digit anomalies (MCOPS6)
- Synonyms:
- Microphthalmia syndromic 6; Microphthalmia and pituitary anomalies; Microphthalmia with brain and digit developmental anomalies; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011936; MedGen: C1864689; Orphanet: 139471; OMIM: 607932
-
MAG: hypothetical protein A2288_03110 [Candidatus Moranbacteria bacterium RIFOXY...
MAG: hypothetical protein A2288_03110 [Candidatus Moranbacteria bacterium RIFOXYA12_FULL_44_15]gi|1083747290|gb|OGI29250.1||gnl|WG F|A2288_03110Protein
-
MAG: tryptophan--tRNA ligase [Candidatus Moranbacteria bacterium RIFOXYA12_FULL_...
MAG: tryptophan--tRNA ligase [Candidatus Moranbacteria bacterium RIFOXYA12_FULL_44_15]gi|1083747276|gb|OGI29236.1||gnl|WG F|A2288_03030Protein
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024