ClinVar

NM_001166108.2(PALLD):c.2527A>G (p.Ile843Val)

Genes:

CBR4:carbonyl reductase 4 [Gene - OMIM - HGNC]
PALLD:palladin, cytoskeletal associated protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q32.3

Genomic location:

• Chr4: 168903811 (on Assembly GRCh38)
• Chr4: 169824962 (on Assembly GRCh37)

Preferred name:

NM_001166108.2(PALLD):c.2527A>G (p.Ile843Val)

Other names:

p.I826V:ATT>GTT

HGVS:

• NC_000004.12:g.168903811A>G
• NG_013376.1:g.411746A>G
• NM_001166108.2:c.2527A>GMANE SELECT
• NM_001166109.2:c.1330A>G
• NM_001166110.2:c.1015A>G
• NM_001367567.1:c.355A>G
• NM_001367568.1:c.406A>G
• NM_001367569.1:c.355A>G
• NM_001367570.1:c.406A>G
• NM_016081.4:c.2476A>G
• NP_001159580.1:p.Ile843Val
• NP_001159581.1:p.Ile444Val
• NP_001159582.1:p.Ile339Val
• NP_001354496.1:p.Ile119Val
• NP_001354497.1:p.Ile136Val
• NP_001354498.1:p.Ile119Val
• NP_001354499.1:p.Ile136Val
• NP_057165.3:p.Ile826Val
• NC_000004.11:g.169824962A>G
• NM_001166108.1:c.2527A>G
• NM_016081.3:c.2476A>G

This HGVS expression did not pass validation

Protein change:

I119V

Links:

dbSNP: rs587780198

NCBI 1000 Genomes Browser:

rs587780198

Molecular consequence:

• NM_001166108.2:c.2527A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166109.2:c.1330A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166110.2:c.1015A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367567.1:c.355A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367568.1:c.406A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367569.1:c.355A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367570.1:c.406A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_016081.4:c.2476A>G - missense variant - [Sequence Ontology: SO:0001583]