ClinVar

NM_014780.5(CUL7):c.3523C>T (p.His1175Tyr)

Gene:

CUL7:cullin 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 43042924 (on Assembly GRCh38)
• Chr6: 43010662 (on Assembly GRCh37)

Preferred name:

NM_014780.5(CUL7):c.3523C>T (p.His1175Tyr)

HGVS:

• NC_000006.12:g.43042924G>A
• NG_016205.1:g.16022C>T
• NM_001168370.2:c.3619C>T
• NM_001374872.1:c.3619C>T
• NM_001374873.1:c.3523C>T
• NM_001374874.1:c.3520C>T
• NM_014780.5:c.3523C>TMANE SELECT
• NP_001161842.2:p.His1207Tyr
• NP_001361801.1:p.His1207Tyr
• NP_001361802.1:p.His1175Tyr
• NP_001361803.1:p.His1174Tyr
• NP_055595.2:p.His1175Tyr
• NC_000006.11:g.43010662G>A

This HGVS expression did not pass validation

Protein change:

H1174Y

Links:

dbSNP: rs2150315876

NCBI 1000 Genomes Browser:

rs2150315876

Molecular consequence:

• NM_001168370.2:c.3619C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374872.1:c.3619C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374873.1:c.3523C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374874.1:c.3520C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014780.5:c.3523C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1