ClinVar

NM_001126108.2(SLC12A3):c.509T>C (p.Leu170Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q13

Genomic location:

• Chr16: 56869732 (on Assembly GRCh38)
• Chr16: 56903644 (on Assembly GRCh37)

Preferred name:

NM_001126108.2(SLC12A3):c.509T>C (p.Leu170Pro)

HGVS:

• NC_000016.10:g.56869732T>C
• NG_009386.1:g.9526T>C
• NM_000339.3:c.509T>C
• NM_001126107.2:c.506T>C
• NM_001126108.2:c.509T>CMANE SELECT
• NP_000330.3:p.Leu170Pro
• NP_001119579.2:p.Leu169Pro
• NP_001119580.2:p.Leu170Pro
• NC_000016.9:g.56903644T>C
• NM_000339.2:c.509T>C

This HGVS expression did not pass validation

Protein change:

L169P

Links:

dbSNP: rs1596890176

NCBI 1000 Genomes Browser:

rs1596890176

Molecular consequence:

• NM_000339.3:c.509T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126107.2:c.506T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126108.2:c.509T>C - missense variant - [Sequence Ontology: SO:0001583]