ClinVar

NM_014953.5(DIS3):c.163C>G (p.Pro55Ala)

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: 72781670 (on Assembly GRCh38)
• Chr13: 73355808 (on Assembly GRCh37)

Preferred name:

NM_014953.5(DIS3):c.163C>G (p.Pro55Ala)

HGVS:

• NC_000013.11:g.72781670G>C
• NG_053118.1:g.4647G>C
• NG_053118.2:g.4539G>C
• NG_128003.1:g.679G>C
• NM_001128226.3:c.163C>G
• NM_001322348.2:c.-49C>G
• NM_001322349.2:c.-392C>G
• NM_014953.5:c.163C>GMANE SELECT
• NP_001121698.1:p.Pro55Ala
• NP_055768.3:p.Pro55Ala
• NC_000013.10:g.73355808G>C
• NM_014953.3:c.163C>G

This HGVS expression did not pass validation

Protein change:

P55A

Molecular consequence:

• NM_001322348.2:c.-49C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001322349.2:c.-392C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001128226.3:c.163C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_014953.5:c.163C>G - missense variant - [Sequence Ontology: SO:0001583]