NM_033380.3(COL4A5):c.2042G>A (p.Gly681Asp) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003050648.3
Allele description [Variation Report for NM_033380.3(COL4A5):c.2042G>A (p.Gly681Asp)]
NM_033380.3(COL4A5):c.2042G>A (p.Gly681Asp)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Homo sapiens mRNA for cardiac potassium channel subunit (Kv6.2)
Homo sapiens mRNA for cardiac potassium channel subunit (Kv6.2)gi|6006492|emb|AJ011021.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024