ClinVar

NM_002617.4(PEX10):c.418G>C (p.Gly140Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.32

Genomic location:

• Chr1: 2408634 (on Assembly GRCh38)
• Chr1: 2340073 (on Assembly GRCh37)

Preferred name:

NM_002617.4(PEX10):c.418G>C (p.Gly140Arg)

Other names:

p.Gly140Arg

HGVS:

• NC_000001.11:g.2408634C>G
• NG_008342.1:g.8938G>C
• NM_001374425.1:c.418G>C
• NM_001374426.1:c.-15G>C
• NM_001374427.1:c.-15G>C
• NM_002617.4:c.418G>CMANE SELECT
• NM_153818.2:c.418G>C
• NP_001361354.1:p.Gly140Arg
• NP_002608.1:p.Gly140Arg
• NP_722540.1:p.Gly140Arg
• NP_722540.1:p.Gly140Arg
• NC_000001.10:g.2340073C>G
• NM_153818.1:c.418G>C
• NR_164636.1:n.537G>C

This HGVS expression did not pass validation

Protein change:

G140R

Links:

dbSNP: rs76530653

NCBI 1000 Genomes Browser:

rs76530653

Molecular consequence:

• NM_001374426.1:c.-15G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001374427.1:c.-15G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001374425.1:c.418G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_002617.4:c.418G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_153818.2:c.418G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_164636.1:n.537G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]