ClinVar

NM_001126108.2(SLC12A3):c.2902C>A (p.Arg968=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q13

Genomic location:

• Chr16: 56904440 (on Assembly GRCh38)
• Chr16: 56938352 (on Assembly GRCh37)

Preferred name:

NM_001126108.2(SLC12A3):c.2902C>A (p.Arg968=)

HGVS:

• NC_000016.10:g.56904440C>A
• NG_009386.2:g.44234C>A
• NG_139603.1:g.472C>A
• NM_000339.3:c.2929C>A
• NM_001126107.2:c.2926C>A
• NM_001126108.2:c.2902C>AMANE SELECT
• NM_001410896.1:c.2899C>A
• NP_000330.3:p.Arg977=
• NP_001119579.2:p.Arg976=
• NP_001119580.2:p.Arg968=
• NP_001397825.1:p.Arg967=
• NC_000016.9:g.56938352C>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000339.3:c.2929C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001126107.2:c.2926C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001126108.2:c.2902C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001410896.1:c.2899C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1