ClinVar

NM_000466.3(PEX1):c.1725G>A (p.Leu575=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.2

Genomic location:

• Chr7: 92507072 (on Assembly GRCh38)
• Chr7: 92136386 (on Assembly GRCh37)

Preferred name:

NM_000466.3(PEX1):c.1725G>A (p.Leu575=)

HGVS:

• NC_000007.14:g.92507072C>T
• NG_008341.2:g.26460G>A
• NM_000466.3:c.1725G>AMANE SELECT
• NM_001282677.2:c.1725G>A
• NM_001282678.2:c.1101G>A
• NP_000457.1:p.Leu575=
• NP_001269606.1:p.Leu575=
• NP_001269607.1:p.Leu367=
• NC_000007.13:g.92136386C>T
• NG_008341.1:g.26460G>A
• NM_000466.2:c.1725G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs150667796

NCBI 1000 Genomes Browser:

rs150667796

Molecular consequence:

• NM_000466.3:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282677.2:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282678.2:c.1101G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1