ClinVar

NM_018401.3(STK32B):c.127C>A (p.Arg43=)

Gene:

STK32B:serine/threonine kinase 32B [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.2

Genomic location:

• Chr4: 5168317 (on Assembly GRCh38)
• Chr4: 5170044 (on Assembly GRCh37)

Preferred name:

NM_018401.3(STK32B):c.127C>A (p.Arg43=)

HGVS:

• NC_000004.12:g.5168317C>A
• NG_051593.1:g.121995C>A
• NM_001306082.2:c.-15C>A
• NM_001345969.2:c.127C>A
• NM_018401.3:c.127C>AMANE SELECT
• NP_001332898.1:p.Arg43=
• NP_060871.1:p.Arg43=
• NC_000004.11:g.5170044C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs749831897

NCBI 1000 Genomes Browser:

rs749831897

Molecular consequence:

• NM_001306082.2:c.-15C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001345969.2:c.127C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_018401.3:c.127C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1