NM_144573.4(NEXN):c.2012T>A (p.Ile671Asn) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004524754.1
Allele description [Variation Report for NM_144573.4(NEXN):c.2012T>A (p.Ile671Asn)]
NM_144573.4(NEXN):c.2012T>A (p.Ile671Asn)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
cardiac plasma membrane Ca2+-ATPase hPMCA4b isoform, partial [Homo sapiens]
cardiac plasma membrane Ca2+-ATPase hPMCA4b isoform, partial [Homo sapiens]gi|1147751|gb|AAB17578.1|Protein
-
txid204430[Organism] (491292)
Identical Protein Groups
-
helix-turn-helix domain-containing protein [Fibrobacter sp.]
helix-turn-helix domain-containing protein [Fibrobacter sp.]gi|2769134793|ref|WP_366075231.1|Protein
-
Homo sapiens plastin 3 (PLS3), transcript variant 3, mRNA
Homo sapiens plastin 3 (PLS3), transcript variant 3, mRNAgi|1676324971|ref|NM_001172335.3|Nucleotide
-
Butyrivibrio sp. AE3003
Butyrivibrio sp. AE3003Butyrivibrio sp. AE3003 Genome sequencing and assemblyBioProject
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Last Updated: May 7, 2024