ClinVar

NM_000466.3(PEX1):c.525C>A (p.Leu175=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.2

Genomic location:

• Chr7: 92517990 (on Assembly GRCh38)
• Chr7: 92147304 (on Assembly GRCh37)

Preferred name:

NM_000466.3(PEX1):c.525C>A (p.Leu175=)

HGVS:

• NC_000007.14:g.92517990G>T
• NG_008341.2:g.15542C>A
• NM_000466.3:c.525C>AMANE SELECT
• NM_001282677.2:c.525C>A
• NM_001282678.2:c.-100C>A
• NP_000457.1:p.Leu175=
• NP_001269606.1:p.Leu175=
• NC_000007.13:g.92147304G>T
• NG_008341.1:g.15542C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs886043502

NCBI 1000 Genomes Browser:

rs886043502

Molecular consequence:

• NM_001282678.2:c.-100C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000466.3:c.525C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282677.2:c.525C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1