ClinVar

NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)

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: 108345818 (on Assembly GRCh38)
• Chr11: 108216545 (on Assembly GRCh37)

Preferred name:

NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)

Other names:

p.R2832C:CGT>TGT; NM_000051.4(ATM):c.8494C>T

HGVS:

• NC_000011.10:g.108345818C>T
• NG_009830.1:g.127987C>T
• NG_054724.1:g.129015G>A
• NM_000051.4:c.8494C>TMANE SELECT
• NM_001330368.2:c.641-36747G>A
• NM_001351110.2:c.695-10526G>A
• NM_001351834.2:c.8494C>T
• NP_000042.3:p.Arg2832Cys
• NP_000042.3:p.Arg2832Cys
• NP_001338763.1:p.Arg2832Cys
• LRG_135t1:c.8494C>T
• LRG_135:g.127987C>T
• LRG_135p1:p.Arg2832Cys
• NC_000011.9:g.108216545C>T
• NM_000051.3:c.8494C>T
• NM_000051.3:c.8494C>T
• Q13315:p.Arg2832Cys
• p.R2832C

This HGVS expression did not pass validation

Protein change:

R2832C

Links:

UniProtKB: Q13315#VAR_010881; dbSNP: rs587779872

NCBI 1000 Genomes Browser:

rs587779872

Molecular consequence:

• NM_001330368.2:c.641-36747G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351110.2:c.695-10526G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000051.4:c.8494C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351834.2:c.8494C>T - missense variant - [Sequence Ontology: SO:0001583]