ClinVar

NM_005569.4(LIMK2):c.1773-1479C>T

Gene:

LIMK2:LIM domain kinase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.2

Genomic location:

• Chr22: 31276818 (on Assembly GRCh38)
• Chr22: 31672804 (on Assembly GRCh37)

Preferred name:

NM_005569.4(LIMK2):c.1773-1479C>T

HGVS:

• NC_000022.11:g.31276818C>T
• NG_001274.2:g.482C>T
• NG_029895.2:g.69555C>T
• NG_145460.1:g.711C>T
• NM_001031801.2:c.1739C>T
• NM_005569.4:c.1773-1479C>TMANE SELECT
• NM_016733.3:c.1710-1479C>T
• NP_001026971.1:p.Pro580Leu
• NC_000022.10:g.31672804C>T
• NM_001031801.1:c.1739C>T

This HGVS expression did not pass validation

Protein change:

P580L

Molecular consequence:

• NM_005569.4:c.1773-1479C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_016733.3:c.1710-1479C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001031801.2:c.1739C>T - missense variant - [Sequence Ontology: SO:0001583]