ClinVar

NM_003073.5(SMARCB1):c.1113C>T (p.Asn371=)

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: 23833698 (on Assembly GRCh38)
• Chr22: 24175885 (on Assembly GRCh37)

Preferred name:

NM_003073.5(SMARCB1):c.1113C>T (p.Asn371=)

HGVS:

• NC_000022.11:g.23833698C>T
• NG_009303.1:g.51736C>T
• NM_001007468.3:c.1086C>T
• NM_001317946.2:c.1140C>T
• NM_001362877.2:c.1167C>T
• NM_003073.5:c.1113C>TMANE SELECT
• NP_001007469.1:p.Asn362=
• NP_001304875.1:p.Asn380=
• NP_001349806.1:p.Asn389=
• NP_003064.2:p.Asn371=
• NP_003064.2:p.Asn371=
• LRG_520t1:c.1113C>T
• LRG_520:g.51736C>T
• LRG_520p1:p.Asn371=
• NC_000022.10:g.24175885C>T
• NM_003073.3:c.1113C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001007468.3:c.1086C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317946.2:c.1140C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001362877.2:c.1167C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003073.5:c.1113C>T - synonymous variant - [Sequence Ontology: SO:0001819]