NM_004004.6(GJB2):c.277A>G (p.Met93Val) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003084896.3
Allele description [Variation Report for NM_004004.6(GJB2):c.277A>G (p.Met93Val)]
NM_004004.6(GJB2):c.277A>G (p.Met93Val)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Taxonomy Links for Protein (Select 2734142200) (1)
Taxonomy
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quorum-sensing system protein StcA [Streptococcus pyogenes]
quorum-sensing system protein StcA [Streptococcus pyogenes]gi|560193358|ref|WP_023605037.1|Protein
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BY358550 RIKEN full-length enriched, 12 days embryo head Mus musculus cDNA clone...
BY358550 RIKEN full-length enriched, 12 days embryo head Mus musculus cDNA clone 3021402N03 3', mRNA sequencegi|26588038|gnl|dbEST|16036458|dbj| 550.1|Nucleotide
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Mus musculus cDNA, clone:Y1G0110G13, strand:minus, reference:ENSEMBL:Mouse-Trans...
Mus musculus cDNA, clone:Y1G0110G13, strand:minus, reference:ENSEMBL:Mouse-Transcript-ENST:ENSMUST00000032484, based on BLAT searchgi|56017107|dbj|AK192930.1|Nucleotide
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Mus musculus glyceraldehyde-3-phosphate dehydrogenase, mRNA (cDNA clone MGC:1031...
Mus musculus glyceraldehyde-3-phosphate dehydrogenase, mRNA (cDNA clone MGC:103192 IMAGE:6530979), complete cdsgi|55154582|gb|BC085274.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024