ClinVar

NM_022893.4(BCL11A):c.386-24278G>A

Gene:

BCL11A:BCL11 transcription factor A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.1

Genomic location:

• Chr2: 60493111 (on Assembly GRCh38)
• Chr2: 60720246 (on Assembly GRCh37)

Preferred name:

NM_022893.4(BCL11A):c.386-24278G>A

HGVS:

• NC_000002.12:g.60493111C>T
• NG_011968.1:g.65388G>A
• NM_001363864.1:c.386-30687G>A
• NM_001365609.1:c.386-30687G>A
• NM_018014.4:c.386-24278G>A
• NM_022893.4:c.386-24278G>AMANE SELECT
• NM_138559.2:c.386-24278G>A
• NC_000002.11:g.60720246C>T
• NM_018014.3:c.386-24278G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs11886868

NCBI 1000 Genomes Browser:

rs11886868

Molecular consequence:

• NM_001363864.1:c.386-30687G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001365609.1:c.386-30687G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_018014.4:c.386-24278G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_022893.4:c.386-24278G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_138559.2:c.386-24278G>A - intron variant - [Sequence Ontology: SO:0001627]