ClinVar

NM_000466.3(PEX1):c.2200G>A (p.Val734Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.2

Genomic location:

• Chr7: 92503067 (on Assembly GRCh38)
• Chr7: 92132381 (on Assembly GRCh37)

Preferred name:

NM_000466.3(PEX1):c.2200G>A (p.Val734Ile)

Other names:

p.Val734Ile

HGVS:

• NC_000007.14:g.92503067C>T
• NG_008341.2:g.30465G>A
• NM_000466.3:c.2200G>AMANE SELECT
• NM_001282677.2:c.2029G>A
• NM_001282678.2:c.1576G>A
• NP_000457.1:p.Val734Ile
• NP_001269606.1:p.Val677Ile
• NP_001269607.1:p.Val526Ile
• NC_000007.13:g.92132381C>T
• NC_000007.13:g.92132381C>T
• NG_008341.1:g.30465G>A
• NM_000466.2:c.2200G>A

This HGVS expression did not pass validation

Protein change:

V526I

Links:

dbSNP: rs141510219

NCBI 1000 Genomes Browser:

rs141510219

Molecular consequence:

• NM_000466.3:c.2200G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282677.2:c.2029G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282678.2:c.1576G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2