ClinVar

NM_003073.5(SMARCB1):c.362+20G>T

Gene:

SMARCB1:SWI/SNF related BAF chromatin remodeling complex subunit B1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.23

Genomic location:

• Chr22: 23793708 (on Assembly GRCh38)
• Chr22: 24135895 (on Assembly GRCh37)

Preferred name:

NM_003073.5(SMARCB1):c.362+20G>T

HGVS:

• NC_000022.11:g.23793708G>T
• NG_009303.1:g.11746G>T
• NM_001007468.3:c.335+20G>T
• NM_001317946.2:c.335+20G>T
• NM_001362877.2:c.362+20G>T
• NM_003073.5:c.362+20G>TMANE SELECT
• LRG_520:g.11746G>T
• NC_000022.10:g.24135895G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1383073771

NCBI 1000 Genomes Browser:

rs1383073771

Molecular consequence:

• NM_001007468.3:c.335+20G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001317946.2:c.335+20G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001362877.2:c.362+20G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003073.5:c.362+20G>T - intron variant - [Sequence Ontology: SO:0001627]