ClinVar

NM_001126108.2(SLC12A3):c.741+14G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q13

Genomic location:

• Chr16: 56870249 (on Assembly GRCh38)
• Chr16: 56904161 (on Assembly GRCh37)

Preferred name:

NM_001126108.2(SLC12A3):c.741+14G>A

HGVS:

• NC_000016.10:g.56870249G>A
• NG_009386.2:g.10043G>A
• NM_000339.3:c.741+14G>A
• NM_001126107.2:c.738+14G>A
• NM_001126108.2:c.741+14G>AMANE SELECT
• NM_001410896.1:c.738+14G>A
• NC_000016.9:g.56904161G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000339.3:c.741+14G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001126107.2:c.738+14G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001126108.2:c.741+14G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001410896.1:c.738+14G>A - intron variant - [Sequence Ontology: SO:0001627]