NM_021830.5(TWNK):c.700G>A (p.Glu234Lys) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004364721.1
Allele description [Variation Report for NM_021830.5(TWNK):c.700G>A (p.Glu234Lys)]
NM_021830.5(TWNK):c.700G>A (p.Glu234Lys)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Homo sapiens cDNA clone MGC:189742 IMAGE:9057066, complete cds
Homo sapiens cDNA clone MGC:189742 IMAGE:9057066, complete cdsgi|187957311|gb|BC157847.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024