ClinVar

NM_001365088.1(SLC12A6):c.391A>T (p.Lys131Ter)

Gene:

SLC12A6:solute carrier family 12 member 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q14

Genomic location:

• Chr15: 34260946 (on Assembly GRCh38)
• Chr15: 34553147 (on Assembly GRCh37)

Preferred name:

NM_001365088.1(SLC12A6):c.391A>T (p.Lys131Ter)

HGVS:

• NC_000015.10:g.34260946T>A
• NG_007951.1:g.82119A>T
• NM_001042494.2:c.214A>T
• NM_001042495.2:c.214A>T
• NM_001042496.2:c.364A>T
• NM_001042497.2:c.346A>T
• NM_001365088.1:c.391A>TMANE SELECT
• NM_005135.2:c.238A>T
• NM_133647.2:c.391A>T
• NP_001035959.1:p.Lys72Ter
• NP_001035960.1:p.Lys72Ter
• NP_001035961.1:p.Lys122Ter
• NP_001035962.1:p.Lys116Ter
• NP_001352017.1:p.Lys131Ter
• NP_005126.1:p.Lys80Ter
• NP_598408.1:p.Lys131Ter
• NP_598408.1:p.Lys131Ter
• LRG_270t1:c.238A>T
• LRG_270t2:c.391A>T
• LRG_270:g.82119A>T
• LRG_270p1:p.Lys80Ter
• LRG_270p2:p.Lys131Ter
• NC_000015.9:g.34553147T>A
• NM_133647.1:c.391A>T

This HGVS expression did not pass validation

Protein change:

K116*

Molecular consequence:

• NM_001042494.2:c.214A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001042495.2:c.214A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001042496.2:c.364A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001042497.2:c.346A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001365088.1:c.391A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_005135.2:c.238A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_133647.2:c.391A>T - nonsense - [Sequence Ontology: SO:0001587]