ClinVar

NM_003073.5(SMARCB1):c.1074C>T (p.Asp358=)

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: 23833659 (on Assembly GRCh38)
• Chr22: 24175846 (on Assembly GRCh37)

Preferred name:

NM_003073.5(SMARCB1):c.1074C>T (p.Asp358=)

HGVS:

• NC_000022.11:g.23833659C>T
• NG_009303.1:g.51697C>T
• NM_001007468.3:c.1047C>T
• NM_001317946.2:c.1101C>T
• NM_001362877.2:c.1128C>T
• NM_003073.5:c.1074C>TMANE SELECT
• NP_001007469.1:p.Asp349=
• NP_001304875.1:p.Asp367=
• NP_001349806.1:p.Asp376=
• NP_003064.2:p.Asp358=
• LRG_520t1:c.1074C>T
• LRG_520:g.51697C>T
• NC_000022.10:g.24175846C>T
• NM_003073.3:c.1074C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1205121674

NCBI 1000 Genomes Browser:

rs1205121674

Molecular consequence:

• NM_001007468.3:c.1047C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317946.2:c.1101C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001362877.2:c.1128C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003073.5:c.1074C>T - synonymous variant - [Sequence Ontology: SO:0001819]