NM_015473.4(HEATR5A):c.1724G>A (p.Ser575Asn) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004297567.1
Allele description [Variation Report for NM_015473.4(HEATR5A):c.1724G>A (p.Ser575Asn)]
NM_015473.4(HEATR5A):c.1724G>A (p.Ser575Asn)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
ATP-binding cassette sub-family G member 5 isoform X10 [Homo sapiens]
ATP-binding cassette sub-family G member 5 isoform X10 [Homo sapiens]gi|578803090|ref|XP_006712137.1|Protein
-
ATP-binding cassette sub-family G member 5 [Homo sapiens]
ATP-binding cassette sub-family G member 5 [Homo sapiens]gi|11967969|ref|NP_071881.1|Protein
-
"FQNHWXHRAUXLFU-UHFFFAOYSA-N"[InChIKey] (2)
PubChem Compound
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024