ClinVar

NM_001126108.2(SLC12A3):c.2244G>T (p.Ser748=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q13

Genomic location:

• Chr16: 56887990 (on Assembly GRCh38)
• Chr16: 56921902 (on Assembly GRCh37)

Preferred name:

NM_001126108.2(SLC12A3):c.2244G>T (p.Ser748=)

HGVS:

• NC_000016.10:g.56887990G>T
• NG_009386.2:g.27784G>T
• NM_000339.3:c.2244G>T
• NM_001126107.2:c.2241G>T
• NM_001126108.2:c.2244G>TMANE SELECT
• NM_001410896.1:c.2241G>T
• NP_000330.3:p.Ser748=
• NP_001119579.2:p.Ser747=
• NP_001119580.2:p.Ser748=
• NP_001397825.1:p.Ser747=
• NC_000016.9:g.56921902G>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000339.3:c.2244G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001126107.2:c.2241G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001126108.2:c.2244G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001410896.1:c.2241G>T - synonymous variant - [Sequence Ontology: SO:0001819]