ClinVar

NM_000287.4(PEX6):c.273G>A (p.Trp91Ter)

Gene:

PEX6:peroxisomal biogenesis factor 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 42978878 (on Assembly GRCh38)
• Chr6: 42946616 (on Assembly GRCh37)

Preferred name:

NM_000287.4(PEX6):c.273G>A (p.Trp91Ter)

HGVS:

• NC_000006.12:g.42978878C>T
• NG_008370.1:g.5366G>A
• NM_000287.4:c.273G>AMANE SELECT
• NM_001316313.2:c.273G>A
• NP_000278.3:p.Trp91Ter
• NP_001303242.1:p.Trp91Ter
• NC_000006.11:g.42946616C>T
• NM_000287.3:c.273G>A
• NR_133009.2:n.304G>A

This HGVS expression did not pass validation

Protein change:

W91*

Links:

dbSNP: rs1010184002

NCBI 1000 Genomes Browser:

rs1010184002

Molecular consequence:

• NR_133009.2:n.304G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000287.4:c.273G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001316313.2:c.273G>A - nonsense - [Sequence Ontology: SO:0001587]