ClinVar

NM_001018050.4(POLR3H):c.322C>T (p.Leu108Phe)

Gene:

POLR3H:RNA polymerase III subunit H [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.2

Genomic location:

• Chr22: 41532131 (on Assembly GRCh38)
• Chr22: 41928135 (on Assembly GRCh37)

Preferred name:

NM_001018050.4(POLR3H):c.322C>T (p.Leu108Phe)

HGVS:

• NC_000022.11:g.41532131G>A
• NG_145934.1:g.331G>A
• NM_001018050.4:c.322C>TMANE SELECT
• NM_001018052.4:c.235C>T
• NM_001282884.2:c.322C>T
• NM_001282885.2:c.322C>T
• NM_138338.5:c.322C>T
• NP_001018060.1:p.Leu108Phe
• NP_001018062.1:p.Leu79Phe
• NP_001269813.1:p.Leu108Phe
• NP_001269814.1:p.Leu108Phe
• NP_612211.1:p.Leu108Phe
• NC_000022.10:g.41928135G>A
• NM_001018050.2:c.322C>T

This HGVS expression did not pass validation

Protein change:

L108F

Molecular consequence:

• NM_001018050.4:c.322C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001018052.4:c.235C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282884.2:c.322C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282885.2:c.322C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_138338.5:c.322C>T - missense variant - [Sequence Ontology: SO:0001583]