ClinVar

NM_000287.4(PEX6):c.407C>A (p.Pro136Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 42978744 (on Assembly GRCh38)
• Chr6: 42946482 (on Assembly GRCh37)

Preferred name:

NM_000287.4(PEX6):c.407C>A (p.Pro136Gln)

Other names:

p.Pro136Gln

HGVS:

• NC_000006.12:g.42978744G>T
• NG_008370.1:g.5500C>A
• NM_000287.4:c.407C>AMANE SELECT
• NM_001316313.2:c.407C>A
• NP_000278.3:p.Pro136Gln
• NP_001303242.1:p.Pro136Gln
• NC_000006.11:g.42946482G>T
• NM_000287.3:c.407C>A
• NR_133009.2:n.438C>A

This HGVS expression did not pass validation

Protein change:

P136Q

Links:

dbSNP: rs376824422

NCBI 1000 Genomes Browser:

rs376824422

Molecular consequence:

• NM_000287.4:c.407C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001316313.2:c.407C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_133009.2:n.438C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]