ClinVar

NM_000051.4(ATM):c.2086G>A (p.Gly696Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q22.3

Genomic location:

• Chr11: 108254001 (on Assembly GRCh38)
• Chr11: 108124728 (on Assembly GRCh37)

Preferred name:

NM_000051.4(ATM):c.2086G>A (p.Gly696Arg)

HGVS:

• NC_000011.10:g.108254001G>A
• NG_009830.1:g.36170G>A
• NM_000051.4:c.2086G>AMANE SELECT
• NM_001351834.2:c.2086G>A
• NP_000042.3:p.Gly696Arg
• NP_000042.3:p.Gly696Arg
• NP_001338763.1:p.Gly696Arg
• LRG_135t1:c.2086G>A
• LRG_135:g.36170G>A
• LRG_135p1:p.Gly696Arg
• NC_000011.9:g.108124728G>A
• NM_000051.3:c.2086G>A

This HGVS expression did not pass validation

Protein change:

G696R

Links:

dbSNP: rs879254178

NCBI 1000 Genomes Browser:

rs879254178

Molecular consequence:

• NM_000051.4:c.2086G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351834.2:c.2086G>A - missense variant - [Sequence Ontology: SO:0001583]