ClinVar

NM_001166108.2(PALLD):c.2651T>C (p.Met884Thr)

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: 168913955 (on Assembly GRCh38)
• Chr4: 169835106 (on Assembly GRCh37)

Preferred name:

NM_001166108.2(PALLD):c.2651T>C (p.Met884Thr)

Other names:

p.M867T:ATG>ACG

HGVS:

• NC_000004.12:g.168913955T>C
• NG_013376.1:g.421890T>C
• NM_001166108.2:c.2651T>CMANE SELECT
• NM_001166109.2:c.1454T>C
• NM_001166110.2:c.1139T>C
• NM_001367567.1:c.479T>C
• NM_001367568.1:c.530T>C
• NM_001367569.1:c.479T>C
• NM_001367570.1:c.530T>C
• NM_016081.4:c.2600T>C
• NP_001159580.1:p.Met884Thr
• NP_001159581.1:p.Met485Thr
• NP_001159582.1:p.Met380Thr
• NP_001354496.1:p.Met160Thr
• NP_001354497.1:p.Met177Thr
• NP_001354498.1:p.Met160Thr
• NP_001354499.1:p.Met177Thr
• NP_057165.3:p.Met867Thr
• NC_000004.11:g.169835106T>C
• NM_001166110.1:c.1139T>C
• NM_016081.3:c.2600T>C

This HGVS expression did not pass validation

Protein change:

M160T

Links:

dbSNP: rs587780200

NCBI 1000 Genomes Browser:

rs587780200

Molecular consequence:

• NM_001166108.2:c.2651T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166109.2:c.1454T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166110.2:c.1139T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367567.1:c.479T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367568.1:c.530T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367569.1:c.479T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367570.1:c.530T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_016081.4:c.2600T>C - missense variant - [Sequence Ontology: SO:0001583]