ClinVar

NM_014780.5(CUL7):c.1144C>T (p.Arg382Ter)

Gene:

CUL7:cullin 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 43051057 (on Assembly GRCh38)
• Chr6: 43018795 (on Assembly GRCh37)

Preferred name:

NM_014780.5(CUL7):c.1144C>T (p.Arg382Ter)

HGVS:

• NC_000006.12:g.43051057G>A
• NG_016205.1:g.7889C>T
• NM_001168370.2:c.1240C>T
• NM_001374872.1:c.1240C>T
• NM_001374873.1:c.1144C>T
• NM_001374874.1:c.1144C>T
• NM_014780.5:c.1144C>TMANE SELECT
• NP_001161842.2:p.Arg414Ter
• NP_001361801.1:p.Arg414Ter
• NP_001361802.1:p.Arg382Ter
• NP_001361803.1:p.Arg382Ter
• NP_055595.2:p.Arg382Ter
• NC_000006.11:g.43018795G>A
• NC_000006.11:g.43018795G>A
• NM_014780.4:c.1144C>T

This HGVS expression did not pass validation

Protein change:

R382*

Links:

dbSNP: rs1023630527

NCBI 1000 Genomes Browser:

rs1023630527

Molecular consequence:

• NM_001168370.2:c.1240C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001374872.1:c.1240C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001374873.1:c.1144C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001374874.1:c.1144C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_014780.5:c.1144C>T - nonsense - [Sequence Ontology: SO:0001587]