ClinVar

NM_014953.5(DIS3):c.1036G>C (p.Val346Leu)

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: 72774011 (on Assembly GRCh38)
• Chr13: 73348149 (on Assembly GRCh37)

Preferred name:

NM_014953.5(DIS3):c.1036G>C (p.Val346Leu)

HGVS:

• NC_000013.11:g.72774011C>G
• NM_001128226.3:c.946G>C
• NM_001322348.2:c.667G>C
• NM_001322349.2:c.550G>C
• NM_014953.5:c.1036G>CMANE SELECT
• NP_001121698.1:p.Val316Leu
• NP_001309277.1:p.Val223Leu
• NP_001309278.1:p.Val184Leu
• NP_055768.3:p.Val346Leu
• NC_000013.10:g.73348149C>G
• NM_014953.3:c.1036G>C

This HGVS expression did not pass validation

Protein change:

V184L

Molecular consequence:

• NM_001128226.3:c.946G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322348.2:c.667G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322349.2:c.550G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_014953.5:c.1036G>C - missense variant - [Sequence Ontology: SO:0001583]