ClinVar

NM_000061.3(BTK):c.1780G>A (p.Gly594Arg)

Gene:

BTK:Bruton tyrosine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.1

Genomic location:

• ChrX: 101353322 (on Assembly GRCh38)
• ChrX: 100608310 (on Assembly GRCh37)

Preferred name:

NM_000061.3(BTK):c.1780G>A (p.Gly594Arg)

HGVS:

• NC_000023.11:g.101353322C>T
• NG_009616.1:g.37903G>A
• NG_011734.1:g.648G>A
• NM_000061.2:c.1780G>A
• NM_000061.3:c.1780G>AMANE SELECT
• NM_001287344.2:c.1882G>A
• NM_001287345.2:c.1252G>A
• NP_000052.1:p.Gly594Arg
• NP_001274273.1:p.Gly628Arg
• NP_001274274.1:p.Gly418Arg
• LRG_128t1:c.1780G>A
• LRG_128:g.37903G>A
• NC_000023.10:g.100608310C>T

This HGVS expression did not pass validation

Protein change:

G418R

Links:

dbSNP: rs1555977339

NCBI 1000 Genomes Browser:

rs1555977339

Molecular consequence:

• NM_000061.3:c.1780G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287344.2:c.1882G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287345.2:c.1252G>A - missense variant - [Sequence Ontology: SO:0001583]