ClinVar

NM_203290.4(POLR1C):c.490G>A (p.Val164Met)

Gene:

POLR1C:RNA polymerase I and III subunit C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 43520173 (on Assembly GRCh38)
• Chr6: 43487911 (on Assembly GRCh37)

Preferred name:

NM_203290.4(POLR1C):c.490G>A (p.Val164Met)

HGVS:

• NC_000006.12:g.43520173G>A
• NG_028283.3:g.15472G>A
• NM_001318876.2:c.490G>A
• NM_001363658.2:c.490G>A
• NM_203290.3:c.490G>A
• NM_203290.4:c.490G>AMANE SELECT
• NP_001305805.1:p.Val164Met
• NP_001350587.1:p.Val164Met
• NP_976035.1:p.Val164Met
• NC_000006.11:g.43487911G>A
• NC_000006.11:g.43487911G>A
• NM_203290.2:c.490G>A

This HGVS expression did not pass validation

Protein change:

V164M

Links:

dbSNP: rs200525225

NCBI 1000 Genomes Browser:

rs200525225

Molecular consequence:

• NM_001318876.2:c.490G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363658.2:c.490G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_203290.4:c.490G>A - missense variant - [Sequence Ontology: SO:0001583]