ClinVar

NM_001184970.3(PACSIN2):c.791A>C (p.Lys264Thr)

Gene:

PACSIN2:protein kinase C and casein kinase substrate in neurons 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.2

Genomic location:

• Chr22: 42882299 (on Assembly GRCh38)
• Chr22: 43278305 (on Assembly GRCh37)

Preferred name:

NM_001184970.3(PACSIN2):c.791A>C (p.Lys264Thr)

HGVS:

• NC_000022.11:g.42882299T>G
• NG_146025.1:g.531T>G
• NM_001184970.3:c.791A>CMANE SELECT
• NM_001184971.1:c.791A>C
• NM_001349968.1:c.791A>C
• NM_001349969.2:c.791A>C
• NM_001349970.2:c.791A>C
• NM_001349971.2:c.791A>C
• NM_001349972.1:c.791A>C
• NM_001349973.1:c.791A>C
• NM_001349974.2:c.668A>C
• NM_007229.3:c.791A>C
• NP_001171899.1:p.Lys264Thr
• NP_001171900.1:p.Lys264Thr
• NP_001336897.1:p.Lys264Thr
• NP_001336898.1:p.Lys264Thr
• NP_001336899.1:p.Lys264Thr
• NP_001336900.1:p.Lys264Thr
• NP_001336901.1:p.Lys264Thr
• NP_001336902.1:p.Lys264Thr
• NP_001336903.1:p.Lys223Thr
• NP_009160.2:p.Lys264Thr
• NC_000022.10:g.43278305T>G

This HGVS expression did not pass validation

Protein change:

K223T

Molecular consequence:

• NM_001184970.3:c.791A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001184971.1:c.791A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349968.1:c.791A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349969.2:c.791A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349970.2:c.791A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349971.2:c.791A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349972.1:c.791A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349973.1:c.791A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349974.2:c.668A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_007229.3:c.791A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1