ClinVar

NM_003072.5(SMARCA4):c.-32+34C>T

Gene:

SMARCA4:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 10961208 (on Assembly GRCh38)
• Chr19: 11071884 (on Assembly GRCh37)

Preferred name:

NM_003072.5(SMARCA4):c.-32+34C>T

HGVS:

• NC_000019.10:g.10961208C>T
• NG_011556.2:g.5287C>T
• NM_001128844.3:c.-108+34C>T
• NM_001128847.4:c.-32+34C>T
• NM_001128849.3:c.-32+34C>T
• NM_001374457.1:c.-29+34C>T
• NM_003072.5:c.-32+34C>TMANE SELECT
• LRG_878t1:c.-32+34C>T
• NC_000019.9:g.11071884C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1351249230

NCBI 1000 Genomes Browser:

rs1351249230

Molecular consequence:

• NM_001128844.3:c.-108+34C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001128847.4:c.-32+34C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001128849.3:c.-32+34C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374457.1:c.-29+34C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003072.5:c.-32+34C>T - intron variant - [Sequence Ontology: SO:0001627]