ClinVar

NM_014953.5(DIS3):c.1913G>A (p.Arg638Gln)

Gene:

DIS3:DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q21.33

Genomic location:

• Chr13: 72766029 (on Assembly GRCh38)
• Chr13: 73340167 (on Assembly GRCh37)

Preferred name:

NM_014953.5(DIS3):c.1913G>A (p.Arg638Gln)

HGVS:

• NC_000013.11:g.72766029C>T
• NM_001128226.3:c.1823G>A
• NM_001322348.2:c.1544G>A
• NM_001322349.2:c.1427G>A
• NM_014953.5:c.1913G>AMANE SELECT
• NP_001121698.1:p.Arg608Gln
• NP_001309277.1:p.Arg515Gln
• NP_001309278.1:p.Arg476Gln
• NP_055768.3:p.Arg638Gln
• NC_000013.10:g.73340167C>T
• NM_014953.3:c.1913G>A

This HGVS expression did not pass validation

Protein change:

R476Q

Molecular consequence:

• NM_001128226.3:c.1823G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322348.2:c.1544G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322349.2:c.1427G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014953.5:c.1913G>A - missense variant - [Sequence Ontology: SO:0001583]