ClinVar

NM_014780.5(CUL7):c.2064-1G>A

Gene:

CUL7:cullin 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 43048254 (on Assembly GRCh38)
• Chr6: 43015992 (on Assembly GRCh37)

Preferred name:

NM_014780.5(CUL7):c.2064-1G>A

HGVS:

• NC_000006.12:g.43048254C>T
• NG_016205.1:g.10692G>A
• NM_001168370.2:c.2160-1G>A
• NM_001374872.1:c.2160-1G>A
• NM_001374873.1:c.2064-1G>A
• NM_001374874.1:c.2064-1G>A
• NM_014780.5:c.2064-1G>AMANE SELECT
• NC_000006.11:g.43015992C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2150328634

NCBI 1000 Genomes Browser:

rs2150328634

Molecular consequence:

• NM_001168370.2:c.2160-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001374872.1:c.2160-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001374873.1:c.2064-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001374874.1:c.2064-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_014780.5:c.2064-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Observations:

1