ClinVar

NM_001134771.2(SLC12A5):c.71G>A (p.Arg24His)

Genes:

LOC130065980:ATAC-STARR-seq lymphoblastoid silent region 12971 [Gene]
SLC12A5-AS1:SLC12A5 and MMP9 antisense RNA 1 [Gene - HGNC]
SLC12A5:solute carrier family 12 member 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.12

Genomic location:

• Chr20: 46021836 (on Assembly GRCh38)
• Chr20: 44650475 (on Assembly GRCh37)

Preferred name:

NM_001134771.2(SLC12A5):c.71G>A (p.Arg24His)

HGVS:

• NC_000020.11:g.46021836G>A
• NG_046341.2:g.5152G>A
• NG_200396.1:g.353G>A
• NG_200397.1:g.173G>A
• NM_001134771.2:c.71G>A
• NP_001128243.1:p.Arg24His
• NC_000020.10:g.44650475G>A
• NG_046341.1:g.5147G>A
• NR_147699.1:n.238C>T

This HGVS expression did not pass validation

Protein change:

R24H

Links:

dbSNP: rs777681627

NCBI 1000 Genomes Browser:

rs777681627

Molecular consequence:

• NM_001134771.2:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_147699.1:n.238C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1