NM_030973.4(MED25):c.602dup (p.Ala202fs) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 16, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002035044.2
Allele description [Variation Report for NM_030973.4(MED25):c.602dup (p.Ala202fs)]
NM_030973.4(MED25):c.602dup (p.Ala202fs)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
-
Homo sapiens small nuclear ribonucleoprotein D3 polypeptide 18kDa, mRNA (cDNA cl...
Homo sapiens small nuclear ribonucleoprotein D3 polypeptide 18kDa, mRNA (cDNA clone IMAGE:3868264)gi|21675097|gb|BC034447.1|Nucleotide
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Last Updated: Dec 24, 2023