ClinVar

NM_003070.5(SMARCA2):c.3519G>T (p.Arg1173Ser)

Gene:

SMARCA2:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p24.3

Genomic location:

• Chr9: 2115884 (on Assembly GRCh38)
• Chr9: 2115884 (on Assembly GRCh37)

Preferred name:

NM_003070.5(SMARCA2):c.3519G>T (p.Arg1173Ser)

HGVS:

• NC_000009.12:g.2115884G>T
• NG_032162.2:g.140595G>T
• NM_001289396.2:c.3519G>T
• NM_001289397.2:c.3345G>T
• NM_003070.5:c.3519G>TMANE SELECT
• NM_139045.4:c.3519G>T
• NP_001276325.1:p.Arg1173Ser
• NP_001276325.1:p.Arg1173Ser
• NP_001276326.1:p.Arg1115Ser
• NP_003061.3:p.Arg1173Ser
• NP_620614.2:p.Arg1173Ser
• LRG_882t1:c.3519G>T
• LRG_882:g.140595G>T
• LRG_882p1:p.Arg1173Ser
• NC_000009.11:g.2115884G>T
• NM_001289396.1:c.3519G>T
• NM_003070.3:c.3519G>T

This HGVS expression did not pass validation

Protein change:

R1115S

Links:

dbSNP: rs2130599717

NCBI 1000 Genomes Browser:

rs2130599717

Molecular consequence:

• NM_001289396.2:c.3519G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289397.2:c.3345G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003070.5:c.3519G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_139045.4:c.3519G>T - missense variant - [Sequence Ontology: SO:0001583]