ClinVar

NM_000318.3(PEX2):c.288G>A (p.Gln96=)

Gene:

PEX2:peroxisomal biogenesis factor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.13

Genomic location:

• Chr8: 76983891 (on Assembly GRCh38)
• Chr8: 77896127 (on Assembly GRCh37)

Preferred name:

NM_000318.3(PEX2):c.288G>A (p.Gln96=)

HGVS:

• NC_000008.11:g.76983891C>T
• NG_008371.1:g.21398G>A
• NM_000318.3:c.288G>AMANE SELECT
• NM_001079867.2:c.288G>A
• NM_001172086.2:c.288G>A
• NM_001172087.2:c.288G>A
• NP_000309.2:p.Gln96=
• NP_001073336.2:p.Gln96=
• NP_001165557.2:p.Gln96=
• NP_001165558.2:p.Gln96=
• NC_000008.10:g.77896127C>T
• NM_000318.2:c.288G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs370236723

NCBI 1000 Genomes Browser:

rs370236723

Molecular consequence:

• NM_000318.3:c.288G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001079867.2:c.288G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001172086.2:c.288G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001172087.2:c.288G>A - synonymous variant - [Sequence Ontology: SO:0001819]