ClinVar

NM_020922.5(WNK3):c.3681G>A (p.Gly1227=)

Gene:

WNK3:WNK lysine deficient protein kinase 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.22

Genomic location:

• ChrX: 54239070 (on Assembly GRCh38)
• ChrX: 54265503 (on Assembly GRCh37)

Preferred name:

NM_020922.5(WNK3):c.3681G>A (p.Gly1227=)

HGVS:

• NC_000023.11:g.54239070C>T
• NG_021259.2:g.123936G>A
• NM_001002838.4:c.3681G>A
• NM_001395166.1:c.3681G>A
• NM_020922.5:c.3681G>AMANE SELECT
• NP_001002838.1:p.Gly1227=
• NP_001382095.1:p.Gly1227=
• NP_065973.2:p.Gly1227=
• NP_065973.2:p.Gly1227=
• NC_000023.10:g.54265503C>T
• NM_020922.4:c.3681G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001002838.4:c.3681G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001395166.1:c.3681G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020922.5:c.3681G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1