ClinVar

NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)

Gene:

WFS1:wolframin ER transmembrane glycoprotein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.1

Genomic location:

• Chr4: 6301467 (on Assembly GRCh38)
• Chr4: 6303194 (on Assembly GRCh37)

Preferred name:

NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)

HGVS:

• NC_000004.12:g.6301467C>T
• NG_011700.1:g.36618C>T
• NM_001145853.1:c.1672C>T
• NM_006005.3:c.1672C>TMANE SELECT
• NP_001139325.1:p.Arg558Cys
• NP_005996.2:p.Arg558Cys
• LRG_1417t1:c.1672C>T
• LRG_1417:g.36618C>T
• LRG_1417p1:p.Arg558Cys
• NC_000004.11:g.6303194C>T
• O76024:p.Arg558Cys

This HGVS expression did not pass validation

Protein change:

R558C

Links:

UniProtKB: O76024#VAR_068343; dbSNP: rs199946797

NCBI 1000 Genomes Browser:

rs199946797

Molecular consequence:

• NM_001145853.1:c.1672C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006005.3:c.1672C>T - missense variant - [Sequence Ontology: SO:0001583]