ClinVar

NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln)

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: 23834143 (on Assembly GRCh38)
• Chr22: 24176330 (on Assembly GRCh37)

Preferred name:

NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln)

HGVS:

• NC_000022.11:g.23834143G>A
• NG_009303.1:g.52181G>A
• NM_001007468.3:c.1094G>A
• NM_001317946.2:c.1148G>A
• NM_001362877.2:c.1175G>A
• NM_003073.5:c.1121G>AMANE SELECT
• NP_001007469.1:p.Arg365Gln
• NP_001304875.1:p.Arg383Gln
• NP_001349806.1:p.Arg392Gln
• NP_003064.2:p.Arg374Gln
• LRG_520t1:c.1121G>A
• LRG_520:g.52181G>A
• NC_000022.10:g.24176330G>A
• NM_003073.3:c.1121G>A

This HGVS expression did not pass validation

Protein change:

R365Q

Links:

dbSNP: rs1057517825

NCBI 1000 Genomes Browser:

rs1057517825

Molecular consequence:

• NM_001007468.3:c.1094G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317946.2:c.1148G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362877.2:c.1175G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003073.5:c.1121G>A - missense variant - [Sequence Ontology: SO:0001583]