ClinVar

NM_002617.4(PEX10):c.425G>A (p.Arg142Gln)

Gene:

PEX10:peroxisomal biogenesis factor 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.32

Genomic location:

• Chr1: 2408627 (on Assembly GRCh38)
• Chr1: 2340066 (on Assembly GRCh37)

Preferred name:

NM_002617.4(PEX10):c.425G>A (p.Arg142Gln)

HGVS:

• NC_000001.11:g.2408627C>T
• NG_008342.1:g.8945G>A
• NM_001374425.1:c.425G>A
• NM_001374426.1:c.-8G>A
• NM_001374427.1:c.-8G>A
• NM_002617.4:c.425G>AMANE SELECT
• NM_153818.2:c.425G>A
• NP_001361354.1:p.Arg142Gln
• NP_002608.1:p.Arg142Gln
• NP_722540.1:p.Arg142Gln
• NC_000001.10:g.2340066C>T
• NM_153818.1:c.425G>A
• NR_164636.1:n.544G>A

This HGVS expression did not pass validation

Protein change:

R142Q

Links:

dbSNP: rs138843050

NCBI 1000 Genomes Browser:

rs138843050

Molecular consequence:

• NM_001374426.1:c.-8G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001374427.1:c.-8G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001374425.1:c.425G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002617.4:c.425G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_153818.2:c.425G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_164636.1:n.544G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]