NM_005120.3(MED12):c.4831C>T (p.Arg1611Cys) AND Blepharophimosis - intellectual disability syndrome, MKB type
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002065007.1
Allele description [Variation Report for NM_005120.3(MED12):c.4831C>T (p.Arg1611Cys)]
NM_005120.3(MED12):c.4831C>T (p.Arg1611Cys)
Condition(s)
-
Similar studies for GEO DataSets (Select 200140603) (15)
GEO DataSets
-
Xenopus gilli isolate Km_2 16S ribosomal RNA gene, partial sequence; mitochondri...
Xenopus gilli isolate Km_2 16S ribosomal RNA gene, partial sequence; mitochondrialgi|1189356619|gb|KY852125.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 4, 2023