ClinVar

NM_000051.4(ATM):c.6546G>A (p.Leu2182=)

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: 108321394 (on Assembly GRCh38)
• Chr11: 108192121 (on Assembly GRCh37)

Preferred name:

NM_000051.4(ATM):c.6546G>A (p.Leu2182=)

HGVS:

• NC_000011.10:g.108321394G>A
• NG_009830.1:g.103563G>A
• NG_054724.1:g.153439C>T
• NM_000051.4:c.6546G>AMANE SELECT
• NM_001330368.2:c.641-12323C>T
• NM_001351110.2:c.*39-12323C>T
• NM_001351834.2:c.6546G>A
• NP_000042.3:p.Leu2182=
• NP_000042.3:p.Leu2182=
• NP_001338763.1:p.Leu2182=
• LRG_135t1:c.6546G>A
• LRG_135:g.103563G>A
• LRG_135p1:p.Leu2182=
• NC_000011.9:g.108192121G>A
• NM_000051.3:c.6546G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs756551824

NCBI 1000 Genomes Browser:

rs756551824

Molecular consequence:

• NM_001330368.2:c.641-12323C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351110.2:c.*39-12323C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000051.4:c.6546G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351834.2:c.6546G>A - synonymous variant - [Sequence Ontology: SO:0001819]