ClinVar

NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)

Gene:

PACS2:phosphofurin acidic cluster sorting protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.33

Genomic location:

• Chr14: 105368112 (on Assembly GRCh38)
• Chr14: 105834449 (on Assembly GRCh37)

Preferred name:

NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)

Other names:

p.Glu209Lys

HGVS:

• NC_000014.9:g.105368112G>A
• NM_001100913.3:c.625G>AMANE SELECT
• NM_001243127.3:c.424G>A
• NM_015197.4:c.625G>A
• NP_001094383.2:p.Glu209Lys
• NP_001230056.1:p.Glu142Lys
• NP_056012.2:p.Glu209Lys
• NC_000014.8:g.105834449G>A
• NM_001100913.2:c.625G>A
• NM_001243127.3:c.424G>A
• NM_015197.4:c.625G>A

This HGVS expression did not pass validation

Protein change:

E142K; GLU209LYS

Links:

OMIM: 610423.0001; dbSNP: rs1555408401

NCBI 1000 Genomes Browser:

rs1555408401

Molecular consequence:

• NM_001100913.3:c.625G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243127.3:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015197.4:c.625G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1