ClinVar

NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His)

Gene:

SLC5A1:solute carrier family 5 member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.3

Genomic location:

• Chr22: 32104793 (on Assembly GRCh38)
• Chr22: 32500780 (on Assembly GRCh37)

Preferred name:

NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His)

HGVS:

• NC_000022.11:g.32104793G>A
• NG_017045.1:g.66762G>A
• NM_000343.4:c.1673G>AMANE SELECT
• NM_001256314.2:c.1292G>A
• NP_000334.1:p.Arg558His
• NP_001243243.1:p.Arg431His
• NC_000022.10:g.32500780G>A
• NM_000343.3:c.1673G>A

This HGVS expression did not pass validation

Protein change:

R431H; ARG558HIS

Links:

OMIM: 182380.0003; dbSNP: rs201799893

NCBI 1000 Genomes Browser:

rs201799893

Molecular consequence:

• NM_000343.4:c.1673G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256314.2:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1