NM_002618.4(PEX13):c.11A>C (p.Gln4Pro) AND PEX13-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004741180.1
Allele description [Variation Report for NM_002618.4(PEX13):c.11A>C (p.Gln4Pro)]
NM_002618.4(PEX13):c.11A>C (p.Gln4Pro)
Condition(s)
- Name:
- PEX13-related disorder
- Synonyms:
- PEX13-related disorders; PEX13-related condition
- Identifiers:
-
Rattus norvegicus ATPase family, AAA domain containing 1 (Atad1), mRNA; nuclear ...
Rattus norvegicus ATPase family, AAA domain containing 1 (Atad1), mRNA; nuclear gene for mitochondrial productgi|78097111|ref|NM_001035002.1|Nucleotide
-
Homo sapiens 12 BAC RP11-349L8 (Roswell Park Cancer Institute Human BAC Library)...
Homo sapiens 12 BAC RP11-349L8 (Roswell Park Cancer Institute Human BAC Library) complete sequencegi|15133604|gnl|bcmhgsc|project_hce lor|gb|AC079851.14|Nucleotide
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Last Updated: Oct 13, 2024