NM_000238.4(KCNH2):c.3133_3136del (p.Leu1045fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 12, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001008765.2
Allele description [Variation Report for NM_000238.4(KCNH2):c.3133_3136del (p.Leu1045fs)]
NM_000238.4(KCNH2):c.3133_3136del (p.Leu1045fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
-
Nephrosclerosis: glomeruli
Nephrosclerosis: glomeruliAccession: GDS3712GEO DataSets
-
Related DataSets for GEO Profiles (Select 65973048) (1)
GEO DataSets
-
Chromosome neighbors for GEO Profiles (Select 131948396) (20)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Nov 5, 2022