ClinVar

NM_001330288.2(SMARCC2):c.3364C>T (p.Pro1122Ser)

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: 56164600 (on Assembly GRCh38)
• Chr12: 56558384 (on Assembly GRCh37)

Preferred name:

NM_001330288.2(SMARCC2):c.3364C>T (p.Pro1122Ser)

HGVS:

• NC_000012.12:g.56164600G>A
• NG_047081.1:g.29968C>T
• NM_001130420.3:c.3316+48C>T
• NM_001330288.2:c.3364C>TMANE SELECT
• NM_003075.5:c.3271C>T
• NM_139067.4:c.3316+48C>T
• NP_001317217.1:p.Pro1122Ser
• NP_003066.2:p.Pro1091Ser
• NC_000012.11:g.56558384G>A
• NM_003075.3:c.3271C>T

This HGVS expression did not pass validation

Protein change:

P1091S

Molecular consequence:

• NM_001130420.3:c.3316+48C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_139067.4:c.3316+48C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001330288.2:c.3364C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003075.5:c.3271C>T - missense variant - [Sequence Ontology: SO:0001583]