ClinVar

NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)

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: 108315883 (on Assembly GRCh38)
• Chr11: 108186610 (on Assembly GRCh37)

Preferred name:

NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)

Other names:

p.G2023R:GGA>AGA; NP_000042.3:p.Gly2023Arg

HGVS:

• NC_000011.10:g.108315883G>A
• NG_009830.1:g.98052G>A
• NG_054724.1:g.158950C>T
• NM_000051.4:c.6067G>AMANE SELECT
• NM_001330368.2:c.641-6812C>T
• NM_001351110.2:c.*39-6812C>T
• NM_001351834.2:c.6067G>A
• NP_000042.3:p.Gly2023Arg
• NP_000042.3:p.Gly2023Arg
• NP_001338763.1:p.Gly2023Arg
• LRG_135t1:c.6067G>A
• LRG_135:g.98052G>A
• LRG_135p1:p.Gly2023Arg
• NC_000011.9:g.108186610G>A
• NM_000051.2:c.6067G>A
• NM_000051.3:c.6067G>A
• Q13315:p.Gly2023Arg
• p.G2023R

This HGVS expression did not pass validation

Protein change:

G2023R

Links:

UniProtKB: Q13315#VAR_077238; dbSNP: rs11212587

NCBI 1000 Genomes Browser:

rs11212587

Molecular consequence:

• NM_001330368.2:c.641-6812C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351110.2:c.*39-6812C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000051.4:c.6067G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351834.2:c.6067G>A - missense variant - [Sequence Ontology: SO:0001583]