ClinVar

NM_001330288.2(SMARCC2):c.1926+1G>T

Gene:

SMARCC2:SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.2

Genomic location:

• Chr12: 56172427 (on Assembly GRCh38)
• Chr12: 56566211 (on Assembly GRCh37)

Preferred name:

NM_001330288.2(SMARCC2):c.1926+1G>T

HGVS:

• NC_000012.12:g.56172427C>A
• NG_047081.1:g.22141G>T
• NM_001130420.3:c.1926+1G>T
• NM_001330288.2:c.1926+1G>TMANE SELECT
• NM_003075.5:c.1833+1G>T
• NM_139067.4:c.1926+1G>T
• NC_000012.11:g.56566211C>A
• NM_003075.3:c.1833+1G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1555221275

NCBI 1000 Genomes Browser:

rs1555221275

Molecular consequence:

• NM_001130420.3:c.1926+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001330288.2:c.1926+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_003075.5:c.1833+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_139067.4:c.1926+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

1