ClinVar

NM_014953.5(DIS3):c.2819A>G (p.Asp940Gly)

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: 72759853 (on Assembly GRCh38)
• Chr13: 73333991 (on Assembly GRCh37)

Preferred name:

NM_014953.5(DIS3):c.2819A>G (p.Asp940Gly)

HGVS:

• NC_000013.11:g.72759853T>C
• NM_001128226.3:c.2729A>G
• NM_001322348.2:c.2450A>G
• NM_001322349.2:c.2333A>G
• NM_014953.5:c.2819A>GMANE SELECT
• NP_001121698.1:p.Asp910Gly
• NP_001309277.1:p.Asp817Gly
• NP_001309278.1:p.Asp778Gly
• NP_055768.3:p.Asp940Gly
• NC_000013.10:g.73333991T>C
• NM_014953.3:c.2819A>G

This HGVS expression did not pass validation

Protein change:

D778G

Molecular consequence:

• NM_001128226.3:c.2729A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322348.2:c.2450A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322349.2:c.2333A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_014953.5:c.2819A>G - missense variant - [Sequence Ontology: SO:0001583]