ClinVar

NM_213655.5(WNK1):c.2152C>T (p.Arg718Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.33

Genomic location:

• Chr12: 865122 (on Assembly GRCh38)
• Chr12: 974288 (on Assembly GRCh37)

Preferred name:

NM_213655.5(WNK1):c.2152C>T (p.Arg718Cys)

HGVS:

• NC_000012.12:g.865122C>T
• NG_007984.3:g.117064C>T
• NM_001184985.2:c.2140-2744C>T
• NM_014823.3:c.2139+2852C>T
• NM_018979.4:c.2139+2852C>TMANE SELECT
• NM_213655.5:c.2152C>T
• NP_998820.3:p.Arg718Cys
• NP_998820.3:p.Arg718Cys
• LRG_247t1:c.2139+2852C>T
• LRG_247t2:c.2152C>T
• LRG_247:g.117064C>T
• LRG_247p2:p.Arg718Cys
• NC_000012.11:g.974288C>T
• NM_213655.4:c.2152C>T

This HGVS expression did not pass validation

Protein change:

R718C

Links:

dbSNP: rs786205473

NCBI 1000 Genomes Browser:

rs786205473

Molecular consequence:

• NM_001184985.2:c.2140-2744C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_014823.3:c.2139+2852C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_018979.4:c.2139+2852C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_213655.5:c.2152C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1