NM_000466.3(PEX1):c.233G>C (p.Arg78Thr) AND Zellweger spectrum disorders
- Germline classification:
- Uncertain significance (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:
- RCV001874584.5
Allele description [Variation Report for NM_000466.3(PEX1):c.233G>C (p.Arg78Thr)]
NM_000466.3(PEX1):c.233G>C (p.Arg78Thr)
Condition(s)
-
txid96543[Organism:noexp] (88)
Protein
-
Accipiter gentilis chromosome 8, bAccGen1.1, whole genome shotgun sequence
Accipiter gentilis chromosome 8, bAccGen1.1, whole genome shotgun sequencegi|2277734304|gnl|ASM:GCF_929443794 R_8|ref|NC_064887.1||gpp|GPC_000014142.1||gnl|NCBI_GENOMES|125121Nucleotide
-
Accipiter gentilis genome assembly, chromosome: 24
Accipiter gentilis genome assembly, chromosome: 24gi|2191808373|emb|OV839385.1|Nucleotide
-
bAccGen1
bAccGen1Accipiter gentilis (northern goshawk) genome assembly, bAccGen1BioProject
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024