ClinVar

NM_014780.5(CUL7):c.1137G>A (p.Pro379=)

Gene:

CUL7:cullin 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 43051064 (on Assembly GRCh38)
• Chr6: 43018802 (on Assembly GRCh37)

Preferred name:

NM_014780.5(CUL7):c.1137G>A (p.Pro379=)

HGVS:

• NC_000006.12:g.43051064C>T
• NG_016205.1:g.7882G>A
• NG_108262.1:g.521C>T
• NG_108263.1:g.20C>T
• NM_001168370.2:c.1233G>A
• NM_001374872.1:c.1233G>A
• NM_001374873.1:c.1137G>A
• NM_001374874.1:c.1137G>A
• NM_014780.5:c.1137G>AMANE SELECT
• NP_001161842.2:p.Pro411=
• NP_001361801.1:p.Pro411=
• NP_001361802.1:p.Pro379=
• NP_001361803.1:p.Pro379=
• NP_055595.2:p.Pro379=
• NC_000006.11:g.43018802C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001168370.2:c.1233G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374872.1:c.1233G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374873.1:c.1137G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374874.1:c.1137G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_014780.5:c.1137G>A - synonymous variant - [Sequence Ontology: SO:0001819]