ClinVar

NM_000051.4(ATM):c.660G>A (p.Ala220=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q22.3

Genomic location:

• Chr11: 108244116 (on Assembly GRCh38)
• Chr11: 108114843 (on Assembly GRCh37)

Preferred name:

NM_000051.4(ATM):c.660G>A (p.Ala220=)

HGVS:

• NC_000011.10:g.108244116G>A
• NG_009830.1:g.26285G>A
• NM_000051.4:c.660G>AMANE SELECT
• NM_001351834.2:c.660G>A
• NP_000042.3:p.Ala220=
• NP_000042.3:p.Ala220=
• NP_001338763.1:p.Ala220=
• LRG_135t1:c.660G>A
• LRG_135:g.26285G>A
• LRG_135p1:p.Ala220=
• NC_000011.9:g.108114843G>A
• NM_000051.3:c.660G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs763669136

NCBI 1000 Genomes Browser:

rs763669136

Molecular consequence:

• NM_000051.4:c.660G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351834.2:c.660G>A - synonymous variant - [Sequence Ontology: SO:0001819]