ClinVar

NM_173851.3(SLC30A8):c.592C>T (p.Gln198Ter)

Gene:

SLC30A8:solute carrier family 30 member 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.11

Genomic location:

• Chr8: 117161757 (on Assembly GRCh38)
• Chr8: 118173996 (on Assembly GRCh37)

Preferred name:

NM_173851.3(SLC30A8):c.592C>T (p.Gln198Ter)

HGVS:

• NC_000008.11:g.117161757C>T
• NG_016991.1:g.216485C>T
• NM_001172811.2:c.445C>T
• NM_001172813.2:c.445C>T
• NM_001172814.2:c.445C>T
• NM_001172815.3:c.445C>T
• NM_173851.3:c.592C>TMANE SELECT
• NP_001166282.1:p.Gln149Ter
• NP_001166284.1:p.Gln149Ter
• NP_001166285.1:p.Gln149Ter
• NP_001166286.1:p.Gln149Ter
• NP_776250.2:p.Gln198Ter
• NC_000008.10:g.118173996C>T

This HGVS expression did not pass validation

Protein change:

Q149*

Molecular consequence:

• NM_001172811.2:c.445C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001172813.2:c.445C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001172814.2:c.445C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001172815.3:c.445C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_173851.3:c.592C>T - nonsense - [Sequence Ontology: SO:0001587]