ClinVar

NM_032485.6(MCM8):c.2060G>A (p.Arg687Gln)

Gene:

MCM8:minichromosome maintenance 8 homologous recombination repair factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p12.3

Genomic location:

• Chr20: 5986028 (on Assembly GRCh38)
• Chr20: 5966674 (on Assembly GRCh37)

Preferred name:

NM_032485.6(MCM8):c.2060G>A (p.Arg687Gln)

HGVS:

• NC_000020.11:g.5986028G>A
• NG_042869.1:g.40377G>A
• NG_042869.2:g.40378G>A
• NM_001281520.2:c.2060G>A
• NM_001281521.2:c.2180G>A
• NM_001281522.2:c.1919G>A
• NM_032485.6:c.2060G>AMANE SELECT
• NM_182802.3:c.2012G>A
• NP_001268449.1:p.Arg687Gln
• NP_001268450.1:p.Arg727Gln
• NP_001268451.1:p.Arg640Gln
• NP_115874.3:p.Arg687Gln
• NP_877954.1:p.Arg671Gln
• NC_000020.10:g.5966674G>A
• NM_032485.5:c.2060G>A

This HGVS expression did not pass validation

Protein change:

R640Q

Molecular consequence:

• NM_001281520.2:c.2060G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281521.2:c.2180G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281522.2:c.1919G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_032485.6:c.2060G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_182802.3:c.2012G>A - missense variant - [Sequence Ontology: SO:0001583]