ClinVar

NM_001641.4(APEX1):c.259G>C (p.Glu87Gln)

Gene:

APEX1:apurinic/apyrimidinic endodeoxyribonuclease 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 20456680 (on Assembly GRCh38)
• Chr14: 20924839 (on Assembly GRCh37)

Preferred name:

NM_001641.4(APEX1):c.259G>C (p.Glu87Gln)

HGVS:

• NC_000014.9:g.20456680G>C
• NG_008718.1:g.6550G>C
• NM_001244249.2:c.259G>C
• NM_001641.4:c.259G>CMANE SELECT
• NM_080648.3:c.259G>C
• NM_080649.3:c.259G>C
• NP_001231178.1:p.Glu87Gln
• NP_001632.2:p.Glu87Gln
• NP_542379.1:p.Glu87Gln
• NP_542380.1:p.Glu87Gln
• NC_000014.8:g.20924839G>C

This HGVS expression did not pass validation

Protein change:

E87Q

Links:

dbSNP: rs762384959

NCBI 1000 Genomes Browser:

rs762384959

Molecular consequence:

• NM_001244249.2:c.259G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001641.4:c.259G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_080648.3:c.259G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_080649.3:c.259G>C - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

variation affecting protein structure [Variation Ontology: 0060]