ClinVar

NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)

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: 108330233 (on Assembly GRCh38)
• Chr11: 108200960 (on Assembly GRCh37)

Preferred name:

NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)

HGVS:

• NC_000011.10:g.108330233C>T
• NG_009830.1:g.112402C>T
• NG_054724.1:g.144600G>A
• NM_000051.4:c.7327C>TMANE SELECT
• NM_001330368.2:c.641-21162G>A
• NM_001351110.2:c.*38+4987G>A
• NM_001351834.2:c.7327C>T
• NP_000042.3:p.Arg2443Ter
• NP_000042.3:p.Arg2443Ter
• NP_001338763.1:p.Arg2443Ter
• LRG_135t1:c.7327C>T
• LRG_135:g.112402C>T
• LRG_135p1:p.Arg2443Ter
• NC_000011.9:g.108200960C>T
• NM_000051.3:c.7327C>T
• NM_001351834.2:c.7327C>T

This HGVS expression did not pass validation

Protein change:

R2443*; ARG2443TER

Links:

OMIM: 607585.0019; dbSNP: rs121434220

NCBI 1000 Genomes Browser:

rs121434220

Molecular consequence:

• NM_001330368.2:c.641-21162G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351110.2:c.*38+4987G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000051.4:c.7327C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001351834.2:c.7327C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1