ClinVar

NM_003590.5(CUL3):c.543C>T (p.Gly181=)

Gene:

CUL3:cullin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q36.2

Genomic location:

• Chr2: 224513635 (on Assembly GRCh38)
• Chr2: 225378352 (on Assembly GRCh37)

Preferred name:

NM_003590.5(CUL3):c.543C>T (p.Gly181=)

HGVS:

• NC_000002.12:g.224513635G>A
• NG_032169.1:g.76763C>T
• NM_001257197.2:c.345C>T
• NM_001257198.2:c.561C>T
• NM_003590.5:c.543C>TMANE SELECT
• NP_001244126.1:p.Gly115=
• NP_001244127.1:p.Gly187=
• NP_003581.1:p.Gly181=
• NC_000002.11:g.225378352G>A
• NC_000002.11:g.225378352G>A
• NM_003590.4:c.543C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs17480168

NCBI 1000 Genomes Browser:

rs17480168

Molecular consequence:

• NM_001257197.2:c.345C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257198.2:c.561C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003590.5:c.543C>T - synonymous variant - [Sequence Ontology: SO:0001819]