ClinVar

NM_006005.3(WFS1):c.1743C>T (p.Gly581=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.1

Genomic location:

• Chr4: 6301538 (on Assembly GRCh38)
• Chr4: 6303265 (on Assembly GRCh37)

Preferred name:

NM_006005.3(WFS1):c.1743C>T (p.Gly581=)

HGVS:

• NC_000004.12:g.6301538C>T
• NG_011700.1:g.36689C>T
• NM_001145853.1:c.1743C>T
• NM_006005.3:c.1743C>TMANE SELECT
• NP_001139325.1:p.Gly581=
• NP_005996.2:p.Gly581=
• LRG_1417t1:c.1743C>T
• LRG_1417:g.36689C>T
• LRG_1417p1:p.Gly581=
• NC_000004.11:g.6303265C>T
• p.Gly581Gly

This HGVS expression did not pass validation

Links:

dbSNP: rs377539343

NCBI 1000 Genomes Browser:

rs377539343

Molecular consequence:

• NM_001145853.1:c.1743C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006005.3:c.1743C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2