ClinVar

NM_003073.5(SMARCB1):c.1097G>A (p.Arg366His)

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: 23833682 (on Assembly GRCh38)
• Chr22: 24175869 (on Assembly GRCh37)

Preferred name:

NM_003073.5(SMARCB1):c.1097G>A (p.Arg366His)

HGVS:

• NC_000022.11:g.23833682G>A
• NG_009303.1:g.51720G>A
• NM_001007468.3:c.1070G>A
• NM_001317946.2:c.1124G>A
• NM_001362877.2:c.1151G>A
• NM_003073.5:c.1097G>AMANE SELECT
• NP_001007469.1:p.Arg357His
• NP_001304875.1:p.Arg375His
• NP_001349806.1:p.Arg384His
• NP_003064.2:p.Arg366His
• LRG_520t1:c.1097G>A
• LRG_520:g.51720G>A
• NC_000022.10:g.24175869G>A
• NM_003073.3:c.1097G>A

This HGVS expression did not pass validation

Protein change:

R357H

Links:

dbSNP: rs1555881572

NCBI 1000 Genomes Browser:

rs1555881572

Molecular consequence:

• NM_001007468.3:c.1070G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317946.2:c.1124G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362877.2:c.1151G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003073.5:c.1097G>A - missense variant - [Sequence Ontology: SO:0001583]