ClinVar

NM_014780.5(CUL7):c.1090G>A (p.Ala364Thr)

Gene:

CUL7:cullin 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 43051111 (on Assembly GRCh38)
• Chr6: 43018849 (on Assembly GRCh37)

Preferred name:

NM_014780.5(CUL7):c.1090G>A (p.Ala364Thr)

HGVS:

• NC_000006.12:g.43051111C>T
• NG_016205.1:g.7835G>A
• NG_108262.1:g.568C>T
• NG_108263.1:g.67C>T
• NM_001168370.2:c.1186G>A
• NM_001374872.1:c.1186G>A
• NM_001374873.1:c.1090G>A
• NM_001374874.1:c.1090G>A
• NM_014780.5:c.1090G>AMANE SELECT
• NP_001161842.2:p.Ala396Thr
• NP_001361801.1:p.Ala396Thr
• NP_001361802.1:p.Ala364Thr
• NP_001361803.1:p.Ala364Thr
• NP_055595.2:p.Ala364Thr
• NC_000006.11:g.43018849C>T

This HGVS expression did not pass validation

Protein change:

A364T

Molecular consequence:

• NM_001168370.2:c.1186G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374872.1:c.1186G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374873.1:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374874.1:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014780.5:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1