NM_004004.6(GJB2):c.2T>C (p.Met1Thr) AND GJB2-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004530500.1
Allele description [Variation Report for NM_004004.6(GJB2):c.2T>C (p.Met1Thr)]
NM_004004.6(GJB2):c.2T>C (p.Met1Thr)
Condition(s)
- Name:
- GJB2-related disorder
- Synonyms:
- GJB2-Related Disorders; GJB2-related condition
- Identifiers:
-
MIR331 microRNA 331 [Homo sapiens]
MIR331 microRNA 331 [Homo sapiens]Gene ID:442903Gene
-
Karenia mikimotoi strain RCC1513 clone 2 polyuridylylated ribosomal protein S14 ...
Karenia mikimotoi strain RCC1513 clone 2 polyuridylylated ribosomal protein S14 (rps14), partial cds; chloroplastgi|668348414|gb|KM065634.1|Nucleotide
-
PpBr36_05480 [Pyricularia pennisetigena]
PpBr36_05480 [Pyricularia pennisetigena]Gene ID:40734941Gene
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Last Updated: Jun 29, 2024