NM_000530.8(MPZ):c.742A>G (p.Lys248Glu) AND Charcot-Marie-Tooth disease, type I
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002995352.4
Allele description [Variation Report for NM_000530.8(MPZ):c.742A>G (p.Lys248Glu)]
NM_000530.8(MPZ):c.742A>G (p.Lys248Glu)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease, type I (CMT1)
- Synonyms:
- Charcot-Marie-Tooth Neuropathy Type 1; Hereditary Motor and Sensory Neuropathy 1; Charcot-Marie-Tooth, Type 1
- Identifiers:
- MONDO: MONDO:0019011; MedGen: C0751036
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Xanthomonas sp. SHU 166 767, whole genome shotgun sequence
Xanthomonas sp. SHU 166 767, whole genome shotgun sequencegi|484184519|ref|NZ_AQOJ01000767.1| WGS:NZ_AQOJ01|767Nucleotide
-
Xanthomonas sp. SHU 166 692, whole genome shotgun sequence
Xanthomonas sp. SHU 166 692, whole genome shotgun sequencegi|484184220|ref|NZ_AQOJ01000692.1| WGS:NZ_AQOJ01|692Nucleotide
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Xanthomonas sp. SHU 166 733, whole genome shotgun sequence
Xanthomonas sp. SHU 166 733, whole genome shotgun sequencegi|484184385|ref|NZ_AQOJ01000733.1| WGS:NZ_AQOJ01|733Nucleotide
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Xanthomonas sp. SHU 166 769, whole genome shotgun sequence
Xanthomonas sp. SHU 166 769, whole genome shotgun sequencegi|484184528|ref|NZ_AQOJ01000769.1| WGS:NZ_AQOJ01|769Nucleotide
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Last Updated: Sep 29, 2024