NM_004004.6(GJB2):c.119C>A (p.Ala40Glu) AND not provided
- Germline classification:
- Pathogenic/Likely pathogenic (3 submissions)
- Last evaluated:
- Dec 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001090238.25
Allele description [Variation Report for NM_004004.6(GJB2):c.119C>A (p.Ala40Glu)]
NM_004004.6(GJB2):c.119C>A (p.Ala40Glu)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
cytochrome b, partial (mitochondrion) [Cicindela bicolor]
cytochrome b, partial (mitochondrion) [Cicindela bicolor]gi|512390106|gb|AGO00567.1|Protein
-
Mus musculus mitofusin 2 (Mfn2), transcript variant 3, mRNA
Mus musculus mitofusin 2 (Mfn2), transcript variant 3, mRNAgi|553726992|ref|NM_001285921.1|Nucleotide
-
Mus musculus mitofusin 2 (Mfn2), transcript variant 5, mRNA
Mus musculus mitofusin 2 (Mfn2), transcript variant 5, mRNAgi|552953765|ref|NM_001285923.1|Nucleotide
-
PREDICTED: Capsella rubella UDP-glycosyltransferase 72B2 (LOC17897639), mRNA
PREDICTED: Capsella rubella UDP-glycosyltransferase 72B2 (LOC17897639), mRNAgi|1338505227|ref|XM_023776801.1|Nucleotide
-
Mus musculus mitofusin 2 (Mfn2) mRNA, complete cds
Mus musculus mitofusin 2 (Mfn2) mRNA, complete cdsgi|27447455|gb|AY123975.1|Nucleotide
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Last Updated: Oct 20, 2024