ClinVar

NM_002618.4(PEX13):c.9C>T (p.Ser3=)

Genes:

PEX13:peroxisomal biogenesis factor 13 [Gene - OMIM - HGNC]
PUS10:pseudouridine synthase 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p15

Genomic location:

• Chr2: 61017768 (on Assembly GRCh38)
• Chr2: 61244903 (on Assembly GRCh37)

Preferred name:

NM_002618.4(PEX13):c.9C>T (p.Ser3=)

HGVS:

• NC_000002.12:g.61017768C>T
• NG_008665.1:g.5092C>T
• NM_001322127.1:c.-623+240G>A
• NM_002618.4:c.9C>TMANE SELECT
• NM_144709.4:c.-16+240G>AMANE SELECT
• NP_002609.1:p.Ser3=
• NC_000002.11:g.61244903C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs745465894

NCBI 1000 Genomes Browser:

rs745465894

Molecular consequence:

• NM_001322127.1:c.-623+240G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_144709.4:c.-16+240G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_002618.4:c.9C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1