ClinVar

NM_006005.3(WFS1):c.1676C>A (p.Ala559Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.1

Genomic location:

• Chr4: 6301471 (on Assembly GRCh38)
• Chr4: 6303198 (on Assembly GRCh37)

Preferred name:

NM_006005.3(WFS1):c.1676C>A (p.Ala559Asp)

Other names:

p.Ala559Asp

HGVS:

• NC_000004.12:g.6301471C>A
• NG_011700.1:g.36622C>A
• NM_001145853.1:c.1676C>A
• NM_006005.3:c.1676C>AMANE SELECT
• NP_001139325.1:p.Ala559Asp
• NP_005996.1:p.Ala559Asp
• NP_005996.2:p.Ala559Asp
• LRG_1417t1:c.1676C>A
• LRG_1417:g.36622C>A
• LRG_1417p1:p.Ala559Asp
• NC_000004.11:g.6303198C>A
• NM_006005.2:c.1676C>A

This HGVS expression did not pass validation

Protein change:

A559D

Molecular consequence:

• NM_001145853.1:c.1676C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006005.3:c.1676C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1