NM_000166.6(GJB1):c.14G>T (p.Gly5Val) AND Charcot-Marie-Tooth disease
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Sep 16, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001027491.4
Allele description [Variation Report for NM_000166.6(GJB1):c.14G>T (p.Gly5Val)]
NM_000166.6(GJB1):c.14G>T (p.Gly5Val)
Condition(s)
-
Mus musculus, clone IMAGE:5401580, mRNA
Mus musculus, clone IMAGE:5401580, mRNAgi|28856218|gb|BC048075.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024