ClinVar

NM_000318.3(PEX2):c.304C>A (p.Gln102Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.13

Genomic location:

• Chr8: 76983875 (on Assembly GRCh38)
• Chr8: 77896111 (on Assembly GRCh37)

Preferred name:

NM_000318.3(PEX2):c.304C>A (p.Gln102Lys)

HGVS:

• NC_000008.11:g.76983875G>T
• NG_008371.1:g.21414C>A
• NM_000318.3:c.304C>AMANE SELECT
• NM_001079867.2:c.304C>A
• NM_001172086.2:c.304C>A
• NM_001172087.2:c.304C>A
• NP_000309.2:p.Gln102Lys
• NP_001073336.2:p.Gln102Lys
• NP_001165557.2:p.Gln102Lys
• NP_001165558.2:p.Gln102Lys
• NC_000008.10:g.77896111G>T
• NM_000318.2:c.304C>A

This HGVS expression did not pass validation

Protein change:

Q102K

Links:

dbSNP: rs200065382

NCBI 1000 Genomes Browser:

rs200065382

Molecular consequence:

• NM_000318.3:c.304C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001079867.2:c.304C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001172086.2:c.304C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001172087.2:c.304C>A - missense variant - [Sequence Ontology: SO:0001583]