ClinVar

NM_001166108.2(PALLD):c.2156C>T (p.Thr719Ile)

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: 168894634 (on Assembly GRCh38)
• Chr4: 169815785 (on Assembly GRCh37)

Preferred name:

NM_001166108.2(PALLD):c.2156C>T (p.Thr719Ile)

HGVS:

• NC_000004.12:g.168894634C>T
• NG_013376.1:g.402569C>T
• NM_001166108.2:c.2156C>TMANE SELECT
• NM_001166109.2:c.1010C>T
• NM_001166110.2:c.695C>T
• NM_001367567.1:c.35C>T
• NM_001367568.1:c.35C>T
• NM_001367569.1:c.35C>T
• NM_001367570.1:c.35C>T
• NM_016081.3:c.2156C>T
• NM_016081.4:c.2156C>T
• NP_001159580.1:p.Thr719Ile
• NP_001159581.1:p.Thr337Ile
• NP_001159582.1:p.Thr232Ile
• NP_001354496.1:p.Thr12Ile
• NP_001354497.1:p.Thr12Ile
• NP_001354498.1:p.Thr12Ile
• NP_001354499.1:p.Thr12Ile
• NP_057165.3:p.Thr719Ile
• NC_000004.11:g.169815785C>T

This HGVS expression did not pass validation

Protein change:

T12I

Links:

dbSNP: rs1389047255

NCBI 1000 Genomes Browser:

rs1389047255

Molecular consequence:

• NM_001166108.2:c.2156C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166109.2:c.1010C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166110.2:c.695C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367567.1:c.35C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367568.1:c.35C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367569.1:c.35C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367570.1:c.35C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016081.4:c.2156C>T - missense variant - [Sequence Ontology: SO:0001583]