ClinVar

NM_002617.4(PEX10):c.275G>A (p.Arg92His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.32

Genomic location:

• Chr1: 2408777 (on Assembly GRCh38)
• Chr1: 2340216 (on Assembly GRCh37)

Preferred name:

NM_002617.4(PEX10):c.275G>A (p.Arg92His)

Other names:

p.Arg92His

HGVS:

• NC_000001.11:g.2408777C>T
• NG_008342.1:g.8795G>A
• NM_001374425.1:c.275G>A
• NM_001374426.1:c.-158G>A
• NM_001374427.1:c.-158G>A
• NM_002617.4:c.275G>AMANE SELECT
• NM_153818.2:c.275G>A
• NP_001361354.1:p.Arg92His
• NP_002608.1:p.Arg92His
• NP_722540.1:p.Arg92His
• NP_722540.1:p.Arg92His
• NC_000001.10:g.2340216C>T
• NM_153818.1:c.275G>A
• NR_164636.1:n.394G>A

This HGVS expression did not pass validation

Protein change:

R92H

Links:

dbSNP: rs375649043

NCBI 1000 Genomes Browser:

rs375649043

Molecular consequence:

• NM_001374426.1:c.-158G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001374427.1:c.-158G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001374425.1:c.275G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002617.4:c.275G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_153818.2:c.275G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_164636.1:n.394G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]