NM_000466.3(PEX1):c.1014A>G (p.Leu338=) AND Zellweger spectrum disorders
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002181990.6
Allele description [Variation Report for NM_000466.3(PEX1):c.1014A>G (p.Leu338=)]
NM_000466.3(PEX1):c.1014A>G (p.Leu338=)
Condition(s)
-
UI-R-DZ0-cko-n-09-0-UI.s1 NCI_CGAP_DZ0 Rattus norvegicus cDNA clone IMAGE:733853...
UI-R-DZ0-cko-n-09-0-UI.s1 NCI_CGAP_DZ0 Rattus norvegicus cDNA clone IMAGE:7338539 3', mRNA sequencegi|18189132|gnl|dbEST|10816572|gb|B 79.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024