NM_017780.4(CHD7):c.8557G>A (p.Glu2853Lys) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 2, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002449507.2
Allele description [Variation Report for NM_017780.4(CHD7):c.8557G>A (p.Glu2853Lys)]
NM_017780.4(CHD7):c.8557G>A (p.Glu2853Lys)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Homo sapiens chromosome 4 open reading frame 46, mRNA (cDNA clone MGC:104679 IMA...
Homo sapiens chromosome 4 open reading frame 46, mRNA (cDNA clone MGC:104679 IMAGE:30345779), complete cdsgi|63101673|gb|BC094775.1|Nucleotide
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Last Updated: Sep 29, 2024