ClinVar

NM_020708.5(SLC12A5):c.53-3C>T

Gene:

SLC12A5:solute carrier family 12 member 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.12

Genomic location:

• Chr20: 46034945 (on Assembly GRCh38)
• Chr20: 44663584 (on Assembly GRCh37)

Preferred name:

NM_020708.5(SLC12A5):c.53-3C>T

HGVS:

• NC_000020.11:g.46034945C>T
• NG_046341.1:g.18256C>T
• NM_001134771.1:c.122-3C>T
• NM_001134771.2:c.122-3C>T
• NM_020708.5:c.53-3C>TMANE SELECT
• NC_000020.10:g.44663584C>T
• NM_020708.4:c.53-3C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs367992610

NCBI 1000 Genomes Browser:

rs367992610

Molecular consequence:

• NM_001134771.2:c.122-3C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_020708.5:c.53-3C>T - intron variant - [Sequence Ontology: SO:0001627]