ClinVar

NM_006468.8(POLR3C):c.251G>A (p.Arg84Gln)

Gene:

POLR3C:RNA polymerase III subunit C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.1

Genomic location:

• Chr1: 145826557 (on Assembly GRCh38)
• Chr1: 145608556 (on Assembly GRCh37)

Preferred name:

NM_006468.8(POLR3C):c.251G>A (p.Arg84Gln)

HGVS:

• NC_000001.11:g.145826557G>A
• NM_001303456.1:c.290G>A
• NM_006468.8:c.251G>AMANE SELECT
• NP_001290385.1:p.Arg97Gln
• NP_006459.3:p.Arg84Gln
• NC_000001.10:g.145608556C>T

This HGVS expression did not pass validation

Protein change:

R84Q

Links:

dbSNP: rs115748902

NCBI 1000 Genomes Browser:

rs115748902

Molecular consequence:

• NM_001303456.1:c.290G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006468.8:c.251G>A - missense variant - [Sequence Ontology: SO:0001583]