NM_017635.5(KMT5B):c.2074G>A (p.Ala692Thr) AND Intellectual disability, autosomal dominant 51
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 5, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001837261.1
Allele description [Variation Report for NM_017635.5(KMT5B):c.2074G>A (p.Ala692Thr)]
NM_017635.5(KMT5B):c.2074G>A (p.Ala692Thr)
Condition(s)
-
Homo sapiens cDNA clone IMAGE:5267346
Homo sapiens cDNA clone IMAGE:5267346gi|24270828|gb|BC038727.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023