NM_005677.4(COLQ):c.*257G>A AND Congenital myasthenic syndrome 5
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000311534.5
Allele description [Variation Report for NM_005677.4(COLQ):c.*257G>A]
NM_005677.4(COLQ):c.*257G>A
Condition(s)
-
Drought resistance in Fagus sylvatica
Drought resistance in Fagus sylvaticaGenomic basis of drought resistance in Fagus sylvatica by PoolGWASBioProject
-
MARVEL domain-containing protein 2 isoform X1 [Homo sapiens]
MARVEL domain-containing protein 2 isoform X1 [Homo sapiens]gi|2462496857|ref|XP_054188987.1|Protein
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023