ClinVar

NM_003591.4(CUL2):c.482G>A (p.Arg161Gln)

Gene:

CUL2:cullin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p11.21

Genomic location:

• Chr10: 35049707 (on Assembly GRCh38)
• Chr10: 35338635 (on Assembly GRCh37)

Preferred name:

NM_003591.4(CUL2):c.482G>A (p.Arg161Gln)

HGVS:

• NC_000010.11:g.35049707C>T
• NM_001198777.2:c.482G>A
• NM_001198778.2:c.539G>A
• NM_001198779.1:c.521G>A
• NM_001324375.2:c.318-4839G>A
• NM_001324376.2:c.89G>A
• NM_003591.4:c.482G>AMANE SELECT
• NP_001185706.1:p.Arg161Gln
• NP_001185707.1:p.Arg180Gln
• NP_001185708.1:p.Arg174Gln
• NP_001311305.1:p.Arg30Gln
• NP_003582.2:p.Arg161Gln
• NC_000010.10:g.35338635C>T
• NM_001198778.1:c.539G>A

This HGVS expression did not pass validation

Protein change:

R161Q

Molecular consequence:

• NM_001324375.2:c.318-4839G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001198777.2:c.482G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198778.2:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198779.1:c.521G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324376.2:c.89G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003591.4:c.482G>A - missense variant - [Sequence Ontology: SO:0001583]