NM_000466.3(PEX1):c.927C>G (p.His309Gln) AND Heimler syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001578746.2
Allele description [Variation Report for NM_000466.3(PEX1):c.927C>G (p.His309Gln)]
NM_000466.3(PEX1):c.927C>G (p.His309Gln)
Condition(s)
-
Nucleotide Links for Protein (Select 1034622647) (2)
Nucleotide
-
Homo sapiens chromosome 6 open reading frame 218, mRNA (cDNA clone IMAGE:3917693...
Homo sapiens chromosome 6 open reading frame 218, mRNA (cDNA clone IMAGE:3917693)gi|16741742|gb|BC016666.1|Nucleotide
-
Taxonomy Links for Nucleotide (Select 31455478) (1)
Taxonomy
-
PMC Links for Protein (Select 557948119) (3)
PMC
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Last Updated: Dec 24, 2023