ClinVar

NM_000318.3(PEX2):c.551G>T (p.Cys184Phe)

Gene:

PEX2:peroxisomal biogenesis factor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.13

Genomic location:

• Chr8: 76983628 (on Assembly GRCh38)
• Chr8: 77895864 (on Assembly GRCh37)

Preferred name:

NM_000318.3(PEX2):c.551G>T (p.Cys184Phe)

HGVS:

• NC_000008.11:g.76983628C>A
• NG_008371.1:g.21661G>T
• NM_000318.3:c.551G>TMANE SELECT
• NM_001079867.2:c.551G>T
• NM_001172086.2:c.551G>T
• NM_001172087.2:c.551G>T
• NP_000309.2:p.Cys184Phe
• NP_001073336.2:p.Cys184Phe
• NP_001165557.2:p.Cys184Phe
• NP_001165558.2:p.Cys184Phe
• NC_000008.10:g.77895864C>A

This HGVS expression did not pass validation

Protein change:

C184F

Links:

dbSNP: rs1266603500

NCBI 1000 Genomes Browser:

rs1266603500

Molecular consequence:

• NM_000318.3:c.551G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001079867.2:c.551G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001172086.2:c.551G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001172087.2:c.551G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1