ClinVar

NM_000051.4(ATM):c.4332G>C (p.Leu1444=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q22.3

Genomic location:

• Chr11: 108289697 (on Assembly GRCh38)
• Chr11: 108160424 (on Assembly GRCh37)

Preferred name:

NM_000051.4(ATM):c.4332G>C (p.Leu1444=)

HGVS:

• NC_000011.10:g.108289697G>C
• NG_009830.1:g.71866G>C
• NM_000051.4:c.4332G>CMANE SELECT
• NM_001351834.2:c.4332G>C
• NP_000042.3:p.Leu1444=
• NP_000042.3:p.Leu1444=
• NP_001338763.1:p.Leu1444=
• LRG_135t1:c.4332G>C
• LRG_135:g.71866G>C
• LRG_135p1:p.Leu1444=
• NC_000011.9:g.108160424G>C
• NM_000051.3:c.4332G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs753570046

NCBI 1000 Genomes Browser:

rs753570046

Molecular consequence:

• NM_000051.4:c.4332G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351834.2:c.4332G>C - synonymous variant - [Sequence Ontology: SO:0001819]