ClinVar

NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter)

Genes:

ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q22.3

Genomic location:

• Chr11: 108315856 (on Assembly GRCh38)
• Chr11: 108186583 (on Assembly GRCh37)

Preferred name:

NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter)

HGVS:

• NC_000011.10:g.108315856G>T
• NG_009830.1:g.98025G>T
• NG_054724.1:g.158977C>A
• NM_000051.4:c.6040G>TMANE SELECT
• NM_001330368.2:c.641-6785C>A
• NM_001351110.2:c.*39-6785C>A
• NM_001351834.2:c.6040G>T
• NP_000042.3:p.Glu2014Ter
• NP_000042.3:p.Glu2014Ter
• NP_001338763.1:p.Glu2014Ter
• LRG_135t1:c.6040G>T
• LRG_135:g.98025G>T
• LRG_135p1:p.Glu2014Ter
• NC_000011.9:g.108186583G>T
• NM_000051.3:c.6040G>T

This HGVS expression did not pass validation

Protein change:

E2014*

Links:

dbSNP: rs375783941

NCBI 1000 Genomes Browser:

rs375783941

Molecular consequence:

• NM_001330368.2:c.641-6785C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351110.2:c.*39-6785C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000051.4:c.6040G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001351834.2:c.6040G>T - nonsense - [Sequence Ontology: SO:0001587]