ClinVar

NM_002617.4(PEX10):c.600+1G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.32

Genomic location:

• Chr1: 2408451 (on Assembly GRCh38)
• Chr1: 2339890 (on Assembly GRCh37)

Preferred name:

NM_002617.4(PEX10):c.600+1G>A

HGVS:

• NC_000001.11:g.2408451C>T
• NG_008342.1:g.9121G>A
• NM_001374425.1:c.600+1G>A
• NM_001374426.1:c.168+1G>A
• NM_001374427.1:c.168+1G>A
• NM_002617.4:c.600+1G>AMANE SELECT
• NM_153818.2:c.600+1G>A
• NC_000001.10:g.2339890C>T
• NM_002617.3:c.600+1G>A
• NM_153818.1:c.600+1G>A

This HGVS expression did not pass validation

Note:

NCBI staff reviewed the sequence information reported in PubMed 9683594 to determine the location of this allele on the current reference sequence.

Nucleotide change:

IVS, G-A, +1

Links:

OMIM: 602859.0001; dbSNP: rs267608183

NCBI 1000 Genomes Browser:

rs267608183

Molecular consequence:

• NM_001374425.1:c.600+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001374426.1:c.168+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001374427.1:c.168+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_002617.4:c.600+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_153818.2:c.600+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]