ClinVar

NM_001126108.2(SLC12A3):c.2857-7C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q13

Genomic location:

• Chr16: 56904388 (on Assembly GRCh38)
• Chr16: 56938300 (on Assembly GRCh37)

Preferred name:

NM_001126108.2(SLC12A3):c.2857-7C>T

HGVS:

• NC_000016.10:g.56904388C>T
• NG_009386.2:g.44182C>T
• NM_000339.3:c.2884-7C>T
• NM_001126107.2:c.2881-7C>T
• NM_001126108.2:c.2857-7C>TMANE SELECT
• NC_000016.9:g.56938300C>T
• NG_009386.1:g.44182C>T
• NM_000339.2:c.2884-7C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs745327566

NCBI 1000 Genomes Browser:

rs745327566

Molecular consequence:

• NM_000339.3:c.2884-7C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001126107.2:c.2881-7C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001126108.2:c.2857-7C>T - intron variant - [Sequence Ontology: SO:0001627]