ClinVar

NM_000466.3(PEX1):c.1582A>G (p.Ile528Val)

Gene:

PEX1:peroxisomal biogenesis factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.2

Genomic location:

• Chr7: 92510949 (on Assembly GRCh38)
• Chr7: 92140263 (on Assembly GRCh37)

Preferred name:

NM_000466.3(PEX1):c.1582A>G (p.Ile528Val)

HGVS:

• NC_000007.14:g.92510949T>C
• NG_008341.1:g.22583A>G
• NG_008341.2:g.22583A>G
• NM_000466.3:c.1582A>GMANE SELECT
• NM_001282677.2:c.1582A>G
• NM_001282678.2:c.958A>G
• NP_000457.1:p.Ile528Val
• NP_001269606.1:p.Ile528Val
• NP_001269607.1:p.Ile320Val
• NC_000007.13:g.92140263T>C

This HGVS expression did not pass validation

Protein change:

I320V

Links:

dbSNP: rs1792432441

NCBI 1000 Genomes Browser:

rs1792432441

Molecular consequence:

• NM_000466.3:c.1582A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282677.2:c.1582A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282678.2:c.958A>G - missense variant - [Sequence Ontology: SO:0001583]