ClinVar

NM_000466.3(PEX1):c.1884C>T (p.Asp628=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.2

Genomic location:

• Chr7: 92506264 (on Assembly GRCh38)
• Chr7: 92135578 (on Assembly GRCh37)

Preferred name:

NM_000466.3(PEX1):c.1884C>T (p.Asp628=)

HGVS:

• NC_000007.14:g.92506264G>A
• NG_008341.2:g.27268C>T
• NM_000466.3:c.1884C>TMANE SELECT
• NM_001282677.2:c.1884C>T
• NM_001282678.2:c.1260C>T
• NP_000457.1:p.Asp628=
• NP_001269606.1:p.Asp628=
• NP_001269607.1:p.Asp420=
• NC_000007.13:g.92135578G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1345707685

NCBI 1000 Genomes Browser:

rs1345707685

Molecular consequence:

• NM_000466.3:c.1884C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282677.2:c.1884C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282678.2:c.1260C>T - synonymous variant - [Sequence Ontology: SO:0001819]