ClinVar

NM_030962.4(SBF2):c.4699-9C>A

Genes:

SBF2-AS1:SBF2 antisense RNA 1 [Gene - HGNC]
SBF2:SET binding factor 2 [Gene - OMIM - HGNC]
LOC105369149:uncharacterized LOC105369149 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 9789351 (on Assembly GRCh38)
• Chr11: 9810898 (on Assembly GRCh37)

Preferred name:

NM_030962.4(SBF2):c.4699-9C>A

HGVS:

• NC_000011.10:g.9789351G>T
• NG_008074.1:g.509857C>A
• NM_001386339.1:c.4795-9C>A
• NM_001386342.1:c.4570-9C>A
• NM_030962.4:c.4699-9C>AMANE SELECT
• LRG_267t1:c.4699-9C>A
• LRG_267:g.509857C>A
• NC_000011.9:g.9810898G>T
• NM_030962.3:c.4699-9C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs376668219

NCBI 1000 Genomes Browser:

rs376668219

Molecular consequence:

• NM_001386339.1:c.4795-9C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001386342.1:c.4570-9C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_030962.4:c.4699-9C>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1