ClinVar

NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.13

Genomic location:

• Chr8: 76984088 (on Assembly GRCh38)
• Chr8: 77896324 (on Assembly GRCh37)

Preferred name:

NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)

HGVS:

• NC_000008.11:g.76984088G>C
• NG_008371.1:g.21201C>G
• NM_000318.3:c.91C>GMANE SELECT
• NM_001079867.2:c.91C>G
• NM_001172086.2:c.91C>G
• NM_001172087.2:c.91C>G
• NP_000309.1:p.Gln31Glu
• NP_000309.2:p.Gln31Glu
• NP_001073336.2:p.Gln31Glu
• NP_001165557.1:p.Gln31Glu
• NP_001165557.2:p.Gln31Glu
• NP_001165558.2:p.Gln31Glu
• NC_000008.10:g.77896324G>C
• NM_000318.2:c.91C>G
• NM_001172086.1:c.91C>G

This HGVS expression did not pass validation

Protein change:

Q31E

Links:

dbSNP: rs149287302

NCBI 1000 Genomes Browser:

rs149287302

Molecular consequence:

• NM_000318.3:c.91C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001079867.2:c.91C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001172086.2:c.91C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001172087.2:c.91C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2