NM_015473.4(HEATR5A):c.2966T>C (p.Leu989Ser) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004278893.1
Allele description [Variation Report for NM_015473.4(HEATR5A):c.2966T>C (p.Leu989Ser)]
NM_015473.4(HEATR5A):c.2966T>C (p.Leu989Ser)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
PREDICTED: Homo sapiens ATP binding cassette subfamily G member 5 (ABCG5), trans...
PREDICTED: Homo sapiens ATP binding cassette subfamily G member 5 (ABCG5), transcript variant X5, mRNAgi|2462575985|ref|XM_054343353.1|Nucleotide
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Last Updated: Oct 13, 2024