ClinVar

NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)

Gene:

POLR3B:RNA polymerase III subunit B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.3

Genomic location:

• Chr12: 106432421 (on Assembly GRCh38)
• Chr12: 106826199 (on Assembly GRCh37)

Preferred name:

NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)

Other names:

rs138249161; NM_018082.5(POLR3B):c.1568T>A; p.V523E

HGVS:

• NC_000012.12:g.106432421T>A
• NG_031837.1:g.79764T>A
• NM_001160708.2:c.1394T>A
• NM_018082.6:c.1568T>AMANE SELECT
• NP_001154180.1:p.Val465Glu
• NP_001154180.1:p.Val465Glu
• NP_060552.4:p.Val523Glu
• NC_000012.11:g.106826199T>A
• NM_001160708.1:c.1394T>A
• NM_018082.5:c.1568T>A
• Q9NW08:p.Val523Glu

This HGVS expression did not pass validation

Protein change:

V465E; VAL523GLU

Links:

UniProtKB: Q9NW08#VAR_067006; OMIM: 614366.0005; dbSNP: rs138249161

NCBI 1000 Genomes Browser:

rs138249161

Molecular consequence:

• NM_001160708.2:c.1394T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018082.6:c.1568T>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

probably has functional consequence