ClinVar

NM_000466.3(PEX1):c.282C>G (p.Leu94=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.2

Genomic location:

• Chr7: 92519070 (on Assembly GRCh38)
• Chr7: 92148384 (on Assembly GRCh37)

Preferred name:

NM_000466.3(PEX1):c.282C>G (p.Leu94=)

HGVS:

• NC_000007.14:g.92519070G>C
• NG_008341.2:g.14462C>G
• NM_000466.3:c.282C>GMANE SELECT
• NM_001282677.2:c.282C>G
• NM_001282678.2:c.-378C>G
• NP_000457.1:p.Leu94=
• NP_001269606.1:p.Leu94=
• NC_000007.13:g.92148384G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs201368809

NCBI 1000 Genomes Browser:

rs201368809

Molecular consequence:

• NM_001282678.2:c.-378C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000466.3:c.282C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282677.2:c.282C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1