ClinVar

NM_001126108.2(SLC12A3):c.966G>A (p.Ala322=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q13

Genomic location:

• Chr16: 56872657 (on Assembly GRCh38)
• Chr16: 56906569 (on Assembly GRCh37)

Preferred name:

NM_001126108.2(SLC12A3):c.966G>A (p.Ala322=)

HGVS:

• NC_000016.10:g.56872657G>A
• NG_009386.2:g.12451G>A
• NM_000339.3:c.966G>A
• NM_001126107.2:c.963G>A
• NM_001126108.2:c.966G>AMANE SELECT
• NP_000330.3:p.Ala322=
• NP_001119579.2:p.Ala321=
• NP_001119580.2:p.Ala322=
• NC_000016.9:g.56906569G>A
• NG_009386.1:g.12451G>A
• NM_000339.2:c.966G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs149172580

Molecular consequence:

• NM_000339.3:c.966G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001126107.2:c.963G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001126108.2:c.966G>A - synonymous variant - [Sequence Ontology: SO:0001819]