ClinVar

NM_006005.3(WFS1):c.1187A>G (p.Asn396Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.1

Genomic location:

• Chr4: 6300982 (on Assembly GRCh38)
• Chr4: 6302709 (on Assembly GRCh37)

Preferred name:

NM_006005.3(WFS1):c.1187A>G (p.Asn396Ser)

HGVS:

• NC_000004.12:g.6300982A>G
• NG_011700.1:g.36133A>G
• NM_001145853.1:c.1187A>G
• NM_006005.3:c.1187A>GMANE SELECT
• NP_001139325.1:p.Asn396Ser
• NP_005996.2:p.Asn396Ser
• LRG_1417t1:c.1187A>G
• LRG_1417:g.36133A>G
• LRG_1417p1:p.Asn396Ser
• NC_000004.11:g.6302709A>G

This HGVS expression did not pass validation

Protein change:

N396S

Links:

dbSNP: rs762961939

NCBI 1000 Genomes Browser:

rs762961939

Molecular consequence:

• NM_001145853.1:c.1187A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_006005.3:c.1187A>G - missense variant - [Sequence Ontology: SO:0001583]