ClinVar

NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 42966627 (on Assembly GRCh38)
• Chr6: 42934365 (on Assembly GRCh37)

Preferred name:

NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp)

HGVS:

• NC_000006.12:g.42966627C>G
• NG_008370.1:g.17617G>C
• NM_000287.4:c.1992G>CMANE SELECT
• NM_001316313.2:c.1728G>C
• NP_000278.3:p.Glu664Asp
• NP_001303242.1:p.Glu576Asp
• NC_000006.11:g.42934365C>G
• NC_000006.11:g.42934365C>G
• NM_000287.3:c.1992G>C
• NR_133009.2:n.2023G>C

This HGVS expression did not pass validation

Protein change:

E576D

Links:

dbSNP: rs267608230

NCBI 1000 Genomes Browser:

rs267608230

Molecular consequence:

• NM_000287.4:c.1992G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001316313.2:c.1728G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_133009.2:n.2023G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]