ClinVar

NM_001126108.2(SLC12A3):c.1797C>T (p.Leu599=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q13

Genomic location:

• Chr16: 56884176 (on Assembly GRCh38)
• Chr16: 56918088 (on Assembly GRCh37)

Preferred name:

NM_001126108.2(SLC12A3):c.1797C>T (p.Leu599=)

HGVS:

• NC_000016.10:g.56884176C>T
• NG_009386.2:g.23970C>T
• NM_000339.3:c.1797C>T
• NM_001126107.2:c.1794C>T
• NM_001126108.2:c.1797C>TMANE SELECT
• NP_000330.3:p.Leu599=
• NP_001119579.2:p.Leu598=
• NP_001119580.2:p.Leu599=
• NC_000016.9:g.56918088C>T
• NG_009386.1:g.23970C>T
• NM_000339.2:c.1797C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs777125875

NCBI 1000 Genomes Browser:

rs777125875

Molecular consequence:

• NM_000339.3:c.1797C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001126107.2:c.1794C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001126108.2:c.1797C>T - synonymous variant - [Sequence Ontology: SO:0001819]