ClinVar

NM_000455.5(STK11):c.579C>T (p.Ser193=)

Gene:

STK11:serine/threonine kinase 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 1220487 (on Assembly GRCh38)
• Chr19: 1220486 (on Assembly GRCh37)

Preferred name:

NM_000455.5(STK11):c.579C>T (p.Ser193=)

Other names:

p.S193S:TCC>TCT

HGVS:

• NC_000019.10:g.1220487C>T
• NG_007460.2:g.36081C>T
• NM_000455.5:c.579C>TMANE SELECT
• NP_000446.1:p.Ser193=
• NP_000446.1:p.Ser193=
• LRG_319t1:c.579C>T
• LRG_319:g.36081C>T
• LRG_319p1:p.Ser193=
• NC_000019.9:g.1220486C>T
• NM_000455.4:c.579C>T
• p.S193S

This HGVS expression did not pass validation

Links:

dbSNP: rs730881961

NCBI 1000 Genomes Browser:

rs730881961

Molecular consequence:

• NM_000455.5:c.579C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1