ClinVar

NM_000061.3(BTK):c.1349+4A>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.1

Genomic location:

• ChrX: 101356780 (on Assembly GRCh38)
• ChrX: 100611768 (on Assembly GRCh37)

Preferred name:

NM_000061.3(BTK):c.1349+4A>T

HGVS:

• NC_000023.11:g.101356780T>A
• NG_009616.1:g.34445A>T
• NM_000061.3:c.1349+4A>TMANE SELECT
• NM_001287344.2:c.1451+4A>T
• NM_001287345.2:c.1038+1594A>T
• LRG_128t1:c.1349+4A>T
• LRG_128:g.34445A>T
• NC_000023.10:g.100611768T>A
• NM_000061.2:c.1349+4A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1603005060

NCBI 1000 Genomes Browser:

rs1603005060

Molecular consequence:

• NM_000061.3:c.1349+4A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287344.2:c.1451+4A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287345.2:c.1038+1594A>T - intron variant - [Sequence Ontology: SO:0001627]