ClinVar

NM_002617.4(PEX10):c.857C>T (p.Thr286Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.32

Genomic location:

• Chr1: 2406539 (on Assembly GRCh38)
• Chr1: 2337978 (on Assembly GRCh37)

Preferred name:

NM_002617.4(PEX10):c.857C>T (p.Thr286Met)

HGVS:

• NC_000001.11:g.2406539G>A
• NG_008342.1:g.11033C>T
• NG_016128.1:g.19765G>A
• NM_001374425.1:c.914C>T
• NM_001374426.1:c.482C>T
• NM_001374427.1:c.425C>T
• NM_002617.4:c.857C>TMANE SELECT
• NM_153818.2:c.917C>T
• NP_001361354.1:p.Thr305Met
• NP_001361355.1:p.Thr161Met
• NP_001361356.1:p.Thr142Met
• NP_002608.1:p.Thr286Met
• NP_722540.1:p.Thr306Met
• NC_000001.10:g.2337978G>A
• NC_000001.10:g.2337978G>A
• NM_153818.1:c.917C>T
• NR_164636.1:n.972C>T

This HGVS expression did not pass validation

Protein change:

T142M

Links:

dbSNP: rs774205482

NCBI 1000 Genomes Browser:

rs774205482

Molecular consequence:

• NM_001374425.1:c.914C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374426.1:c.482C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374427.1:c.425C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002617.4:c.857C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_153818.2:c.917C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_164636.1:n.972C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]