ClinVar

NM_000441.2(SLC26A4):c.154A>T (p.Lys52Ter)

Genes:

SLC26A4-AS1:SLC26A4 antisense RNA 1 [Gene - HGNC]
SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q22.3

Genomic location:

• Chr7: 107661795 (on Assembly GRCh38)
• Chr7: 107302240 (on Assembly GRCh37)

Preferred name:

NM_000441.2(SLC26A4):c.154A>T (p.Lys52Ter)

HGVS:

• NC_000007.14:g.107661795A>T
• NG_008489.1:g.6161A>T
• NM_000441.2:c.154A>TMANE SELECT
• NP_000432.1:p.Lys52Ter
• NC_000007.13:g.107302240A>T
• NM_000441.1:c.154A>T
• NR_028137.1:n.4T>A

This HGVS expression did not pass validation

Protein change:

K52*

Links:

dbSNP: rs1562817529

NCBI 1000 Genomes Browser:

rs1562817529

Molecular consequence:

• NR_028137.1:n.4T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000441.2:c.154A>T - nonsense - [Sequence Ontology: SO:0001587]