ClinVar

NM_006206.6(PDGFRA):c.613G>A (p.Val205Ile)

Gene:

PDGFRA:platelet derived growth factor receptor alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q12

Genomic location:

• Chr4: 54263912 (on Assembly GRCh38)
• Chr4: 55130079 (on Assembly GRCh37)

Preferred name:

NM_006206.6(PDGFRA):c.613G>A (p.Val205Ile)

HGVS:

• NC_000004.12:g.54263912G>A
• NG_009250.1:g.39816G>A
• NM_001347827.2:c.613G>A
• NM_001347828.2:c.688G>A
• NM_001347829.2:c.613G>A
• NM_001347830.2:c.652G>A
• NM_006206.6:c.613G>AMANE SELECT
• NP_001334756.1:p.Val205Ile
• NP_001334757.1:p.Val230Ile
• NP_001334758.1:p.Val205Ile
• NP_001334759.1:p.Val218Ile
• NP_006197.1:p.Val205Ile
• LRG_309t1:c.613G>A
• LRG_309:g.39816G>A
• NC_000004.11:g.55130079G>A
• NC_000004.11:g.55130079G>A
• NM_006206.4:c.613G>A

This HGVS expression did not pass validation

Protein change:

V205I

Links:

dbSNP: rs775304724

NCBI 1000 Genomes Browser:

rs775304724

Molecular consequence:

• NM_001347827.2:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347828.2:c.688G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347829.2:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347830.2:c.652G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006206.6:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]