ClinVar

NM_025230.5(DCAF11):c.434G>A (p.Arg145Gln)

Gene:

DCAF11:DDB1 and CUL4 associated factor 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q12

Genomic location:

• Chr14: 24117690 (on Assembly GRCh38)
• Chr14: 24586899 (on Assembly GRCh37)

Preferred name:

NM_025230.5(DCAF11):c.434G>A (p.Arg145Gln)

HGVS:

• NC_000014.9:g.24117690G>A
• NG_011697.2:g.2325C>T
• NM_001163484.2:c.434G>A
• NM_025230.5:c.434G>AMANE SELECT
• NM_181357.2:c.356G>A
• NP_001156956.1:p.Arg145Gln
• NP_079506.3:p.Arg145Gln
• NP_852002.1:p.Arg119Gln
• NC_000014.8:g.24586899G>A
• NM_025230.4:c.434G>A
• NR_028100.1:n.691G>A

This HGVS expression did not pass validation

Protein change:

R119Q

Molecular consequence:

• NM_001163484.2:c.434G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_025230.5:c.434G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181357.2:c.356G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_028100.1:n.691G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]