ClinVar

NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)

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: 108315911 (on Assembly GRCh38)
• Chr11: 108186638 (on Assembly GRCh37)

Preferred name:

NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)

Other names:

p.R2032K:AGA>AAA

HGVS:

• NC_000011.10:g.108315911G>A
• NG_009830.1:g.98080G>A
• NG_054724.1:g.158922C>T
• NM_000051.4:c.6095G>AMANE SELECT
• NM_001330368.2:c.641-6840C>T
• NM_001351110.2:c.*39-6840C>T
• NM_001351834.2:c.6095G>A
• NP_000042.3:p.Arg2032Lys
• NP_000042.3:p.Arg2032Lys
• NP_001338763.1:p.Arg2032Lys
• LRG_135t1:c.6095G>A
• LRG_135:g.98080G>A
• LRG_135p1:p.Arg2032Lys
• NC_000011.9:g.108186638G>A
• NM_000051.3:c.6095G>A
• p.R2032K

This HGVS expression did not pass validation

Protein change:

R2032K

Links:

dbSNP: rs139770721

NCBI 1000 Genomes Browser:

rs139770721

Molecular consequence:

• NM_001330368.2:c.641-6840C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351110.2:c.*39-6840C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000051.4:c.6095G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351834.2:c.6095G>A - missense variant - [Sequence Ontology: SO:0001583]