ClinVar

NM_018979.4(WNK1):c.5725C>T (p.Pro1909Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.33

Genomic location:

• Chr12: 896212 (on Assembly GRCh38)
• Chr12: 1005378 (on Assembly GRCh37)

Preferred name:

NM_018979.4(WNK1):c.5725C>T (p.Pro1909Ser)

HGVS:

• NC_000012.12:g.896212C>T
• NG_007984.3:g.148154C>T
• NM_001184985.2:c.6505C>T
• NM_014823.3:c.4981C>T
• NM_018979.4:c.5725C>TMANE SELECT
• NM_213655.5:c.6481C>T
• NP_001171914.1:p.Pro2169Ser
• NP_055638.2:p.Pro1661Ser
• NP_061852.3:p.Pro1909Ser
• NP_998820.3:p.Pro2161Ser
• LRG_247t1:c.5725C>T
• LRG_247t2:c.6481C>T
• LRG_247:g.148154C>T
• LRG_247p1:p.Pro1909Ser
• LRG_247p2:p.Pro2161Ser
• NC_000012.11:g.1005378C>T

This HGVS expression did not pass validation

Protein change:

P1661S

Molecular consequence:

• NM_001184985.2:c.6505C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014823.3:c.4981C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_018979.4:c.5725C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_213655.5:c.6481C>T - missense variant - [Sequence Ontology: SO:0001583]