ClinVar

NM_003921.5(BCL10):c.638G>A (p.Gly213Glu)

Gene:

BCL10:BCL10 immune signaling adaptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.3

Genomic location:

• Chr1: 85267691 (on Assembly GRCh38)
• Chr1: 85733374 (on Assembly GRCh37)

Preferred name:

NM_003921.5(BCL10):c.638G>A (p.Gly213Glu)

HGVS:

• NC_000001.11:g.85267691C>T
• NG_012216.2:g.14214G>A
• NM_001320715.2:c.605G>A
• NM_003921.5:c.638G>AMANE SELECT
• NP_001307644.1:p.Gly202Glu
• NP_003912.1:p.Gly213Glu
• LRG_1210t1:c.638G>A
• LRG_1210:g.14214G>A
• LRG_1210p1:p.Gly213Glu
• NC_000001.10:g.85733374C>T
• NG_012216.1:g.15210G>A
• NM_003921.4:c.638G>A

This HGVS expression did not pass validation

Protein change:

G202E

Links:

dbSNP: rs3768235

NCBI 1000 Genomes Browser:

rs3768235

Molecular consequence:

• NM_001320715.2:c.605G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003921.5:c.638G>A - missense variant - [Sequence Ontology: SO:0001583]