ClinVar

NM_006005.3(WFS1):c.2175C>G (p.Phe725Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.1

Genomic location:

• Chr4: 6301970 (on Assembly GRCh38)
• Chr4: 6303697 (on Assembly GRCh37)

Preferred name:

NM_006005.3(WFS1):c.2175C>G (p.Phe725Leu)

HGVS:

• NC_000004.12:g.6301970C>G
• NG_011700.1:g.37121C>G
• NM_001145853.1:c.2175C>G
• NM_006005.3:c.2175C>GMANE SELECT
• NP_001139325.1:p.Phe725Leu
• NP_005996.2:p.Phe725Leu
• LRG_1417t1:c.2175C>G
• LRG_1417:g.37121C>G
• LRG_1417p1:p.Phe725Leu
• NC_000004.11:g.6303697C>G

This HGVS expression did not pass validation

Protein change:

F725L

Links:

dbSNP: rs375880230

NCBI 1000 Genomes Browser:

rs375880230

Molecular consequence:

• NM_001145853.1:c.2175C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_006005.3:c.2175C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1