ClinVar

NM_001387889.1(SFMBT2):c.2644G>A (p.Glu882Lys)

Gene:

SFMBT2:Scm like with four mbt domains 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p14

Genomic location:

• Chr10: 7163811 (on Assembly GRCh38)
• Chr10: 7205773 (on Assembly GRCh37)

Preferred name:

NM_001387889.1(SFMBT2):c.2644G>A (p.Glu882Lys)

HGVS:

• NC_000010.11:g.7163811C>T
• NM_001018039.1:c.2644G>A
• NM_001029880.3:c.2644G>A
• NM_001387889.1:c.2644G>AMANE SELECT
• NM_001387890.1:c.1888G>A
• NM_001387891.1:c.2644G>A
• NP_001018049.1:p.Glu882Lys
• NP_001025051.1:p.Glu882Lys
• NP_001374818.1:p.Glu882Lys
• NP_001374819.1:p.Glu630Lys
• NP_001374820.1:p.Glu882Lys
• NC_000010.10:g.7205773C>T
• NM_001029880.2:c.2644G>A

This HGVS expression did not pass validation

Protein change:

E630K

Molecular consequence:

• NM_001018039.1:c.2644G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001029880.3:c.2644G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001387889.1:c.2644G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001387890.1:c.1888G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001387891.1:c.2644G>A - missense variant - [Sequence Ontology: SO:0001583]