ClinVar

NM_001365088.1(SLC12A6):c.271+17825C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q14

Genomic location:

• Chr15: 34318585 (on Assembly GRCh38)
• Chr15: 34610786 (on Assembly GRCh37)

Preferred name:

NM_001365088.1(SLC12A6):c.271+17825C>T

HGVS:

• NC_000015.10:g.34318585G>A
• NG_007951.1:g.24480C>T
• NM_001042494.2:c.94+17825C>T
• NM_001042495.2:c.94+17825C>T
• NM_001042496.2:c.244+17825C>T
• NM_001042497.2:c.271+17825C>T
• NM_001365088.1:c.271+17825C>TMANE SELECT
• NM_005135.2:c.94C>T
• NM_133647.2:c.271+17825C>T
• NP_005126.1:p.Arg32Trp
• LRG_270t1:c.94C>T
• LRG_270:g.24480C>T
• LRG_270p1:p.Arg32Trp
• NC_000015.9:g.34610786G>A

This HGVS expression did not pass validation

Protein change:

R32W

Links:

dbSNP: rs150751809

NCBI 1000 Genomes Browser:

rs150751809

Molecular consequence:

• NM_001042494.2:c.94+17825C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001042495.2:c.94+17825C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001042496.2:c.244+17825C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001042497.2:c.271+17825C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001365088.1:c.271+17825C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133647.2:c.271+17825C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_005135.2:c.94C>T - missense variant - [Sequence Ontology: SO:0001583]