NM_005477.3(HCN4):c.1797G>A (p.Ala599=) AND not specified
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 17, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000424695.9
Allele description [Variation Report for NM_005477.3(HCN4):c.1797G>A (p.Ala599=)]
NM_005477.3(HCN4):c.1797G>A (p.Ala599=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
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AL561008 Homo sapiens B CELLS (RAMOS CELL LINE) COT 25-NORMALIZED Homo sapiens cDNA clone CS0DL006YD21 5-PRIME, mRNA sequencegi|46186371|gnl|dbEST|22290468|emb| 008.3|Nucleotide
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-
Alexander Disease - GeneReviews®
Alexander Disease - GeneReviews®
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024