ClinVar

NM_203290.4(POLR1C):c.733G>A (p.Val245Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 43520702 (on Assembly GRCh38)
• Chr6: 43488440 (on Assembly GRCh37)

Preferred name:

NM_203290.4(POLR1C):c.733G>A (p.Val245Met)

HGVS:

• NC_000006.12:g.43520702G>A
• NG_028283.3:g.16001G>A
• NG_051658.1:g.60374C>T
• NM_001318876.2:c.733G>A
• NM_001363658.2:c.733G>A
• NM_203290.4:c.733G>AMANE SELECT
• NP_001305805.1:p.Val245Met
• NP_001350587.1:p.Val245Met
• NP_976035.1:p.Val245Met
• NC_000006.11:g.43488440G>A
• NM_203290.3:c.733G>A

This HGVS expression did not pass validation

Protein change:

V245M

Links:

dbSNP: rs772343871

NCBI 1000 Genomes Browser:

rs772343871

Molecular consequence:

• NM_001318876.2:c.733G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363658.2:c.733G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_203290.4:c.733G>A - missense variant - [Sequence Ontology: SO:0001583]