NM_000642.3(AGL):c.1172A>G (p.Tyr391Cys) 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:
- RCV002563995.2
Allele description [Variation Report for NM_000642.3(AGL):c.1172A>G (p.Tyr391Cys)]
NM_000642.3(AGL):c.1172A>G (p.Tyr391Cys)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Homo sapiens deoxyribonuclease I-like 1 (DNASE1L1), transcript variant 1, mRNA
Homo sapiens deoxyribonuclease I-like 1 (DNASE1L1), transcript variant 1, mRNAgi|58430940|ref|NM_006730.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 1, 2024