NM_015295.3(SMCHD1):c.3425+5G>C AND Facioscapulohumeral muscular dystrophy 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 23, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001235803.4
Allele description [Variation Report for NM_015295.3(SMCHD1):c.3425+5G>C]
NM_015295.3(SMCHD1):c.3425+5G>C
Condition(s)
-
Uncultured bacterium clone GBL17187 16S ribosomal RNA gene, partial sequence
Uncultured bacterium clone GBL17187 16S ribosomal RNA gene, partial sequencegi|302397937|gb|HM445098.1|Nucleotide
-
EPC2 enhancer of polycomb homolog 2 [Homo sapiens]
EPC2 enhancer of polycomb homolog 2 [Homo sapiens]Gene ID:26122Gene
-
26122[uid] AND (alive[prop]) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024