NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) AND Charcot-Marie-Tooth disease
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001173691.2
Allele description [Variation Report for NM_000530.8(MPZ):c.233C>T (p.Ser78Leu)]
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu)
Condition(s)
-
SRX266383 (1)
SRA
-
26S proteasome non-ATPase regulatory subunit 7 [Acromyrmex echinatior]
26S proteasome non-ATPase regulatory subunit 7 [Acromyrmex echinatior]gi|332024295|gb|EGI64494.1||gnl|WGS |G5I_07000Protein
-
AGENCOURT_14996205 NICHD_XGC_Emb5 Xenopus tropicalis cDNA clone IMAGE:6989811 5'...
AGENCOURT_14996205 NICHD_XGC_Emb5 Xenopus tropicalis cDNA clone IMAGE:6989811 5', mRNA sequencegi|33420067|gnl|dbEST|19433121|gb|C 59.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024