ClinVar

NM_000455.5(STK11):c.1044C>T (p.Asp348=)

Genes:

LOC130062899:ATAC-STARR-seq lymphoblastoid active region 13597 [Gene]
STK11:serine/threonine kinase 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 1223108 (on Assembly GRCh38)
• Chr19: 1223107 (on Assembly GRCh37)

Preferred name:

NM_000455.5(STK11):c.1044C>T (p.Asp348=)

HGVS:

• NC_000019.10:g.1223108C>T
• NG_007460.2:g.38702C>T
• NM_000455.5:c.1044C>TMANE SELECT
• NP_000446.1:p.Asp348=
• NP_000446.1:p.Asp348=
• LRG_319t1:c.1044C>T
• LRG_319:g.38702C>T
• LRG_319p1:p.Asp348=
• NC_000019.9:g.1223107C>T
• NM_000455.4:c.1044C>T
• p.D348D

This HGVS expression did not pass validation

Links:

dbSNP: rs778274196

NCBI 1000 Genomes Browser:

rs778274196

Molecular consequence:

• NM_000455.5:c.1044C>T - synonymous variant - [Sequence Ontology: SO:0001819]