ClinVar

NM_001126108.2(SLC12A3):c.587G>T (p.Gly196Val)

Gene:

SLC12A3:solute carrier family 12 member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q13

Genomic location:

• Chr16: 56869810 (on Assembly GRCh38)
• Chr16: 56903722 (on Assembly GRCh37)

Preferred name:

NM_001126108.2(SLC12A3):c.587G>T (p.Gly196Val)

HGVS:

• NC_000016.10:g.56869810G>T
• NG_009386.2:g.9604G>T
• NM_000339.3:c.587G>T
• NM_001126107.2:c.584G>T
• NM_001126108.2:c.587G>TMANE SELECT
• NM_001410896.1:c.584G>T
• NP_000330.3:p.Gly196Val
• NP_001119579.2:p.Gly195Val
• NP_001119580.2:p.Gly196Val
• NP_001397825.1:p.Gly195Val
• NC_000016.9:g.56903722G>T

This HGVS expression did not pass validation

Protein change:

G195V

Molecular consequence:

• NM_000339.3:c.587G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126107.2:c.584G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126108.2:c.587G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410896.1:c.584G>T - missense variant - [Sequence Ontology: SO:0001583]