NM_198994.3(TGM6):c.1088G>A (p.Ser363Asn) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003267871.2
Allele description [Variation Report for NM_198994.3(TGM6):c.1088G>A (p.Ser363Asn)]
NM_198994.3(TGM6):c.1088G>A (p.Ser363Asn)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Homo sapiens CENPS-CORT readthrough (CENPS-CORT), transcript variant 2, mRNA
Homo sapiens CENPS-CORT readthrough (CENPS-CORT), transcript variant 2, mRNAgi|1677531697|ref|NM_199006.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 1, 2024