ClinVar

NM_001368120.1(PDLIM2):c.569C>T (p.Ala190Val)

Gene:

PDLIM2:PDZ and LIM domain 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.3

Genomic location:

• Chr8: 22589326 (on Assembly GRCh38)
• Chr8: 22446839 (on Assembly GRCh37)

Preferred name:

NM_001368120.1(PDLIM2):c.569C>T (p.Ala190Val)

HGVS:

• NC_000008.11:g.22589326C>T
• NG_030435.2:g.15586C>T
• NG_179436.1:g.341C>T
• NM_001368120.1:c.569C>TMANE SELECT
• NM_021630.6:c.1319C>T
• NM_176871.5:c.569C>T
• NM_198042.4:c.569C>T
• NP_001355049.1:p.Ala190Val
• NP_067643.3:p.Ala440Val
• NP_789847.1:p.Ala190Val
• NP_932159.1:p.Ala190Val
• NC_000008.10:g.22446839C>T
• NM_021630.5:c.1319C>T

This HGVS expression did not pass validation

Protein change:

A190V

Molecular consequence:

• NM_001368120.1:c.569C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_021630.6:c.1319C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_176871.5:c.569C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198042.4:c.569C>T - missense variant - [Sequence Ontology: SO:0001583]