ClinVar

NM_003073.5(SMARCB1):c.1116G>A (p.Thr372=)

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: 23833701 (on Assembly GRCh38)
• Chr22: 24175888 (on Assembly GRCh37)

Preferred name:

NM_003073.5(SMARCB1):c.1116G>A (p.Thr372=)

HGVS:

• NC_000022.11:g.23833701G>A
• NG_009303.1:g.51739G>A
• NM_001007468.3:c.1089G>A
• NM_001317946.2:c.1143G>A
• NM_001362877.2:c.1170G>A
• NM_003073.5:c.1116G>AMANE SELECT
• NP_001007469.1:p.Thr363=
• NP_001304875.1:p.Thr381=
• NP_001349806.1:p.Thr390=
• NP_003064.2:p.Thr372=
• LRG_520t1:c.1116G>A
• LRG_520:g.51739G>A
• NC_000022.10:g.24175888G>A
• NM_003073.3:c.1116G>A
• NM_003073.4:c.1116G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs117084604

NCBI 1000 Genomes Browser:

rs117084604

Molecular consequence:

• NM_001007468.3:c.1089G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317946.2:c.1143G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001362877.2:c.1170G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003073.5:c.1116G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1