ClinVar

NM_018979.4(WNK1):c.3527C>T (p.Ser1176Leu)

Gene:

WNK1:WNK lysine deficient protein kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.33

Genomic location:

• Chr12: 883432 (on Assembly GRCh38)
• Chr12: 992598 (on Assembly GRCh37)

Preferred name:

NM_018979.4(WNK1):c.3527C>T (p.Ser1176Leu)

HGVS:

• NC_000012.12:g.883432C>T
• NG_007984.3:g.135374C>T
• NM_001184985.1:c.4307C>T
• NM_014823.3:c.2786C>T
• NM_018979.4:c.3527C>TMANE SELECT
• NM_213655.4:c.4283C>T
• NP_001171914.1:p.Ser1436Leu
• NP_055638.2:p.Ser929Leu
• NP_061852.3:p.Ser1176Leu
• NP_998820.3:p.Ser1428Leu
• NC_000012.11:g.992598C>T
• NM_018979.3:c.3527C>T

This HGVS expression did not pass validation

Protein change:

S1176L

Links:

dbSNP: rs754769050

NCBI 1000 Genomes Browser:

rs754769050

Molecular consequence:

• NM_001184985.1:c.4307C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014823.3:c.2786C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_018979.4:c.3527C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_213655.4:c.4283C>T - missense variant - [Sequence Ontology: SO:0001583]