ClinVar

NM_001126108.2(SLC12A3):c.2890C>T (p.Leu964=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q13

Genomic location:

• Chr16: 56904428 (on Assembly GRCh38)
• Chr16: 56938340 (on Assembly GRCh37)

Preferred name:

NM_001126108.2(SLC12A3):c.2890C>T (p.Leu964=)

HGVS:

• NC_000016.10:g.56904428C>T
• NG_009386.2:g.44222C>T
• NM_000339.3:c.2917C>T
• NM_001126107.2:c.2914C>T
• NM_001126108.2:c.2890C>TMANE SELECT
• NP_000330.3:p.Leu973=
• NP_001119579.2:p.Leu972=
• NP_001119580.2:p.Leu964=
• NC_000016.9:g.56938340C>T
• NG_009386.1:g.44222C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1596952788

NCBI 1000 Genomes Browser:

rs1596952788

Molecular consequence:

• NM_000339.3:c.2917C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001126107.2:c.2914C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001126108.2:c.2890C>T - synonymous variant - [Sequence Ontology: SO:0001819]