ClinVar

NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)

Gene:

PEX2:peroxisomal biogenesis factor 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

8q21.13

Genomic location:

• Chr8: 76983834 - 76983840 (on Assembly GRCh38)
• Chr8: 77896070 - 77896076 (on Assembly GRCh37)

Preferred name:

NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)

HGVS:

• NC_000008.10:g.77896070_77896076del
• NC_000008.11:g.76983839_76983845del
• NG_008371.1:g.21449_21455del
• NM_000318.3:c.339_345delMANE SELECT
• NM_001079867.2:c.339_345del
• NM_001172086.2:c.339_345del
• NM_001172087.2:c.339_345del
• NP_000309.2:p.Gly113_Arg114insTer
• NP_001073336.2:p.Gly113_Arg114insTer
• NP_001165557.2:p.Gly113_Arg114insTer
• NP_001165558.2:p.Gly113_Arg114insTer
• NC_000008.10:g.77896070_77896076del
• NC_000008.10:g.77896070_77896076delCCACCTG
• NC_000008.10:g.77896075_77896081del
• NM_000318.2:c.339_345del
• NM_000318.2:c.339_345delCAGGTGG
• NM_000318.3:c.339_345delCAGGTGGMANE SELECT

This HGVS expression did not pass validation

Links:

dbSNP: rs764771123

NCBI 1000 Genomes Browser:

rs764771123

Molecular consequence:

• NM_000318.3:c.339_345del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001079867.2:c.339_345del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001172086.2:c.339_345del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001172087.2:c.339_345del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

1