ClinVar

NM_006206.6(PDGFRA):c.3156G>A (p.Thr1052=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q12

Genomic location:

• Chr4: 54295158 (on Assembly GRCh38)
• Chr4: 55161325 (on Assembly GRCh37)

Preferred name:

NM_006206.6(PDGFRA):c.3156G>A (p.Thr1052=)

HGVS:

• NC_000004.12:g.54295158G>A
• NG_009250.1:g.71062G>A
• NM_001347828.2:c.3231G>A
• NM_001347829.2:c.3156G>A
• NM_001347830.2:c.3195G>A
• NM_006206.6:c.3156G>AMANE SELECT
• NP_001334757.1:p.Thr1077=
• NP_001334758.1:p.Thr1052=
• NP_001334759.1:p.Thr1065=
• NP_006197.1:p.Thr1052=
• LRG_309t1:c.3156G>A
• LRG_309:g.71062G>A
• NC_000004.11:g.55161325G>A
• NM_006206.4:c.3156G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs55996208

NCBI 1000 Genomes Browser:

rs55996208

Molecular consequence:

• NM_001347828.2:c.3231G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347829.2:c.3156G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347830.2:c.3195G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006206.6:c.3156G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

13