ClinVar

NM_002617.4(PEX10):c.588G>A (p.Thr196=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.32

Genomic location:

• Chr1: 2408464 (on Assembly GRCh38)
• Chr1: 2339903 (on Assembly GRCh37)

Preferred name:

NM_002617.4(PEX10):c.588G>A (p.Thr196=)

HGVS:

• NC_000001.11:g.2408464C>T
• NG_008342.1:g.9108G>A
• NM_001374425.1:c.588G>A
• NM_001374426.1:c.156G>A
• NM_001374427.1:c.156G>A
• NM_002617.4:c.588G>AMANE SELECT
• NM_153818.2:c.588G>A
• NP_001361354.1:p.Thr196=
• NP_001361355.1:p.Thr52=
• NP_001361356.1:p.Thr52=
• NP_002608.1:p.Thr196=
• NP_722540.1:p.Thr196=
• NC_000001.10:g.2339903C>T
• NM_153818.1:c.588G>A
• NR_164636.1:n.707G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs766103610

NCBI 1000 Genomes Browser:

rs766103610

Molecular consequence:

• NR_164636.1:n.707G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001374425.1:c.588G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374426.1:c.156G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374427.1:c.156G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002617.4:c.588G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153818.2:c.588G>A - synonymous variant - [Sequence Ontology: SO:0001819]