ClinVar

NM_018082.6(POLR3B):c.434G>A (p.Cys145Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.3

Genomic location:

• Chr12: 106376388 (on Assembly GRCh38)
• Chr12: 106770166 (on Assembly GRCh37)

Preferred name:

NM_018082.6(POLR3B):c.434G>A (p.Cys145Tyr)

HGVS:

• NC_000012.12:g.106376388G>A
• NG_031837.1:g.23731G>A
• NM_001160708.2:c.260G>A
• NM_018082.6:c.434G>AMANE SELECT
• NP_001154180.1:p.Cys87Tyr
• NP_060552.4:p.Cys145Tyr
• NC_000012.11:g.106770166G>A
• NM_018082.5:c.434G>A

This HGVS expression did not pass validation

Protein change:

C145Y

Links:

dbSNP: rs139443783

NCBI 1000 Genomes Browser:

rs139443783

Molecular consequence:

• NM_001160708.2:c.260G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018082.6:c.434G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1