ClinVar

NM_003070.5(SMARCA2):c.3638G>C (p.Arg1213Pro)

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: 2116003 (on Assembly GRCh38)
• Chr9: 2116003 (on Assembly GRCh37)

Preferred name:

NM_003070.5(SMARCA2):c.3638G>C (p.Arg1213Pro)

HGVS:

• NC_000009.12:g.2116003G>C
• NG_032162.2:g.140714G>C
• NM_001289396.2:c.3638G>C
• NM_001289397.2:c.3464G>C
• NM_003070.5:c.3638G>CMANE SELECT
• NM_139045.4:c.3638G>C
• NP_001276325.1:p.Arg1213Pro
• NP_001276325.1:p.Arg1213Pro
• NP_001276326.1:p.Arg1155Pro
• NP_003061.3:p.Arg1213Pro
• NP_620614.2:p.Arg1213Pro
• LRG_882t1:c.3638G>C
• LRG_882:g.140714G>C
• LRG_882p1:p.Arg1213Pro
• NC_000009.11:g.2116003G>C
• NM_001289396.1:c.3638G>C
• NM_003070.4:c.3638G>C

This HGVS expression did not pass validation

Protein change:

R1155P

Links:

dbSNP: rs1314729940

NCBI 1000 Genomes Browser:

rs1314729940

Molecular consequence:

• NM_001289396.2:c.3638G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289397.2:c.3464G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_003070.5:c.3638G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_139045.4:c.3638G>C - missense variant - [Sequence Ontology: SO:0001583]