NM_001202.6(BMP4):c.615C>A (p.Val205=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003785605.1
Allele description [Variation Report for NM_001202.6(BMP4):c.615C>A (p.Val205=)]
NM_001202.6(BMP4):c.615C>A (p.Val205=)
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
-
LOC4327522 [Oryza sativa Japonica Group]
LOC4327522 [Oryza sativa Japonica Group]Gene ID:4327522Gene
-
Sterna acuticauda[orgn] (0)
Genome
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024