ClinVar

NM_001365088.1(SLC12A6):c.374G>T (p.Gly125Val)

Gene:

SLC12A6:solute carrier family 12 member 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q14

Genomic location:

• Chr15: 34260963 (on Assembly GRCh38)
• Chr15: 34553164 (on Assembly GRCh37)

Preferred name:

NM_001365088.1(SLC12A6):c.374G>T (p.Gly125Val)

HGVS:

• NC_000015.10:g.34260963C>A
• NG_007951.1:g.82102G>T
• NM_001042494.2:c.197G>T
• NM_001042495.2:c.197G>T
• NM_001042496.2:c.347G>T
• NM_001042497.2:c.329G>T
• NM_001365088.1:c.374G>TMANE SELECT
• NM_005135.2:c.221G>T
• NM_133647.2:c.374G>T
• NP_001035959.1:p.Gly66Val
• NP_001035960.1:p.Gly66Val
• NP_001035961.1:p.Gly116Val
• NP_001035962.1:p.Gly110Val
• NP_001352017.1:p.Gly125Val
• NP_005126.1:p.Gly74Val
• NP_598408.1:p.Gly125Val
• NP_598408.1:p.Gly125Val
• LRG_270t1:c.221G>T
• LRG_270t2:c.374G>T
• LRG_270:g.82102G>T
• LRG_270p1:p.Gly74Val
• LRG_270p2:p.Gly125Val
• NC_000015.9:g.34553164C>A
• NM_133647.1:c.374G>T

This HGVS expression did not pass validation

Protein change:

G110V

Links:

dbSNP: rs759907642

NCBI 1000 Genomes Browser:

rs759907642

Molecular consequence:

• NM_001042494.2:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042495.2:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042496.2:c.347G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042497.2:c.329G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365088.1:c.374G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005135.2:c.221G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133647.2:c.374G>T - missense variant - [Sequence Ontology: SO:0001583]