ClinVar

NM_003073.5(SMARCB1):c.*17C>T

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: 23834197 (on Assembly GRCh38)
• Chr22: 24176384 (on Assembly GRCh37)

Preferred name:

NM_003073.5(SMARCB1):c.*17C>T

HGVS:

• NC_000022.11:g.23834197C>T
• NG_009303.1:g.52235C>T
• NM_001007468.3:c.*17C>T
• NM_001317946.2:c.*17C>T
• NM_001362877.2:c.*17C>T
• NM_003073.5:c.*17C>TMANE SELECT
• LRG_520t1:c.*17C>T
• LRG_520:g.52235C>T
• NC_000022.10:g.24176384C>T
• NM_003073.3:c.*17C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs372348692

NCBI 1000 Genomes Browser:

rs372348692

Molecular consequence:

• NM_001007468.3:c.*17C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001317946.2:c.*17C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001362877.2:c.*17C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_003073.5:c.*17C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Observations:

2