ClinVar

NM_001166108.2(PALLD):c.2790C>A (p.Phe930Leu)

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: 168915967 (on Assembly GRCh38)
• Chr4: 169837118 (on Assembly GRCh37)

Preferred name:

NM_001166108.2(PALLD):c.2790C>A (p.Phe930Leu)

HGVS:

• NC_000004.12:g.168915967C>A
• NG_013376.1:g.423902C>A
• NM_001166108.2:c.2790C>AMANE SELECT
• NM_001166109.2:c.1593C>A
• NM_001166110.2:c.1278C>A
• NM_001367567.1:c.618C>A
• NM_001367568.1:c.669C>A
• NM_001367569.1:c.618C>A
• NM_001367570.1:c.669C>A
• NM_016081.3:c.2739C>A
• NM_016081.4:c.2739C>A
• NP_001159580.1:p.Phe930Leu
• NP_001159581.1:p.Phe531Leu
• NP_001159582.1:p.Phe426Leu
• NP_001354496.1:p.Phe206Leu
• NP_001354497.1:p.Phe223Leu
• NP_001354498.1:p.Phe206Leu
• NP_001354499.1:p.Phe223Leu
• NP_057165.3:p.Phe913Leu
• NC_000004.11:g.169837118C>A

This HGVS expression did not pass validation

Protein change:

F206L

Links:

dbSNP: rs370652817

NCBI 1000 Genomes Browser:

rs370652817

Molecular consequence:

• NM_001166108.2:c.2790C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166109.2:c.1593C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166110.2:c.1278C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367567.1:c.618C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367568.1:c.669C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367569.1:c.618C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367570.1:c.669C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_016081.4:c.2739C>A - missense variant - [Sequence Ontology: SO:0001583]