ClinVar

NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter)

Gene:

ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q22.3

Genomic location:

• Chr11: 108307914 (on Assembly GRCh38)
• Chr11: 108178641 (on Assembly GRCh37)

Preferred name:

NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter)

HGVS:

• NC_000011.10:g.108307914C>T
• NG_009830.1:g.90083C>T
• NG_054724.1:g.166919G>A
• NM_000051.4:c.5692C>TMANE SELECT
• NM_001351834.2:c.5692C>T
• NP_000042.3:p.Arg1898Ter
• NP_000042.3:p.Arg1898Ter
• NP_001338763.1:p.Arg1898Ter
• LRG_135t1:c.5692C>T
• LRG_135:g.90083C>T
• LRG_135p1:p.Arg1898Ter
• NC_000011.9:g.108178641C>T
• NM_000051.3:c.5692C>T

This HGVS expression did not pass validation

Protein change:

R1898*

Links:

dbSNP: rs775036118

NCBI 1000 Genomes Browser:

rs775036118

Molecular consequence:

• NM_000051.4:c.5692C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001351834.2:c.5692C>T - nonsense - [Sequence Ontology: SO:0001587]