ClinVar

NM_213655.5(WNK1):c.2653G>T (p.Val885Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.33

Genomic location:

• Chr12: 868124 (on Assembly GRCh38)
• Chr12: 977290 (on Assembly GRCh37)

Preferred name:

NM_213655.5(WNK1):c.2653G>T (p.Val885Phe)

HGVS:

• NC_000012.12:g.868124G>T
• NG_007984.3:g.120066G>T
• NM_001184985.1:c.2398G>T
• NM_001184985.2:c.2398G>T
• NM_014823.3:c.2140-3141G>T
• NM_018979.4:c.2140-3141G>TMANE SELECT
• NM_213655.5:c.2653G>T
• NP_001171914.1:p.Val800Phe
• NP_998820.3:p.Val885Phe
• NP_998820.3:p.Val885Phe
• LRG_247t1:c.2140-3141G>T
• LRG_247t2:c.2653G>T
• LRG_247:g.120066G>T
• LRG_247p2:p.Val885Phe
• NC_000012.11:g.977290G>T
• NM_213655.4:c.2653G>T

This HGVS expression did not pass validation

Protein change:

V800F

Links:

dbSNP: rs769092053

NCBI 1000 Genomes Browser:

rs769092053

Molecular consequence:

• NM_014823.3:c.2140-3141G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_018979.4:c.2140-3141G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001184985.2:c.2398G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_213655.5:c.2653G>T - missense variant - [Sequence Ontology: SO:0001583]