ClinVar

NM_002609.4(PDGFRB):c.2466C>T (p.Cys822=)

Gene:

PDGFRB:platelet derived growth factor receptor beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q32

Genomic location:

• Chr5: 150121008 (on Assembly GRCh38)
• Chr5: 149500571 (on Assembly GRCh37)

Preferred name:

NM_002609.4(PDGFRB):c.2466C>T (p.Cys822=)

HGVS:

• NC_000005.10:g.150121008G>A
• NG_023367.1:g.39852C>T
• NM_001355016.2:c.2274C>T
• NM_001355017.2:c.1983C>T
• NM_002609.4:c.2466C>TMANE SELECT
• NP_001341945.1:p.Cys758=
• NP_001341946.1:p.Cys661=
• NP_002600.1:p.Cys822=
• NC_000005.9:g.149500571G>A
• NM_002609.3:c.2466C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs55830572

NCBI 1000 Genomes Browser:

rs55830572

Molecular consequence:

• NM_001355016.2:c.2274C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001355017.2:c.1983C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002609.4:c.2466C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1