ClinVar

NM_003073.5(SMARCB1):c.362+134C>T

Gene:

SMARCB1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.23

Genomic location:

• Chr22: 23793822 (on Assembly GRCh38)
• Chr22: 24136009 (on Assembly GRCh37)

Preferred name:

NM_003073.5(SMARCB1):c.362+134C>T

HGVS:

• NC_000022.11:g.23793822C>T
• NG_009303.1:g.11860C>T
• NM_001007468.3:c.335+134C>T
• NM_001317946.2:c.335+134C>T
• NM_001362877.2:c.362+134C>T
• NM_003073.5:c.362+134C>TMANE SELECT
• LRG_520:g.11860C>T
• NC_000022.10:g.24136009C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs150449817

NCBI 1000 Genomes Browser:

rs150449817

Molecular consequence:

• NM_001007468.3:c.335+134C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001317946.2:c.335+134C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001362877.2:c.362+134C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003073.5:c.362+134C>T - intron variant - [Sequence Ontology: SO:0001627]