ClinVar

NM_032387.5(WNK4):c.973G>A (p.Ala325Thr)

Genes:

LOC126862568:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:40934948-40936147 [Gene]
WNK4:WNK lysine deficient protein kinase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

• Chr17: 42784118 (on Assembly GRCh38)
• Chr17: 40936136 (on Assembly GRCh37)

Preferred name:

NM_032387.5(WNK4):c.973G>A (p.Ala325Thr)

HGVS:

• NC_000017.11:g.42784118G>A
• NG_016227.1:g.8488G>A
• NM_001321299.2:c.54G>A
• NM_032387.5:c.973G>AMANE SELECT
• NP_001308228.1:p.Trp18Ter
• NP_115763.2:p.Ala325Thr
• NC_000017.10:g.40936136G>A
• NM_032387.4:c.973G>A

This HGVS expression did not pass validation

Protein change:

A325T

Links:

dbSNP: rs387907559

NCBI 1000 Genomes Browser:

rs387907559

Molecular consequence:

• NM_032387.5:c.973G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321299.2:c.54G>A - nonsense - [Sequence Ontology: SO:0001587]