NM_021954.4(GJA3):c.848G>A (p.Arg283His) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003367301.2
Allele description [Variation Report for NM_021954.4(GJA3):c.848G>A (p.Arg283His)]
NM_021954.4(GJA3):c.848G>A (p.Arg283His)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
transmembrane protein 180 isoform X1 [Homo sapiens]
transmembrane protein 180 isoform X1 [Homo sapiens]gi|2462520985|ref|XP_054222711.1|Protein
-
ml57h06.x1 Stratagene mouse testis (#937308) Mus musculus cDNA clone IMAGE:51615...
ml57h06.x1 Stratagene mouse testis (#937308) Mus musculus cDNA clone IMAGE:516155 3', mRNA sequencegi|4275152|gnl|dbEST|2236982|gb|AI4 .1|Nucleotide
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Last Updated: May 1, 2024