ClinVar

NM_000051.4(ATM):c.3173G>A (p.Trp1058Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q22.3

Genomic location:

• Chr11: 108272741 (on Assembly GRCh38)
• Chr11: 108143468 (on Assembly GRCh37)

Preferred name:

NM_000051.4(ATM):c.3173G>A (p.Trp1058Ter)

HGVS:

• NC_000011.10:g.108272741G>A
• NG_009830.1:g.54910G>A
• NM_000051.4:c.3173G>AMANE SELECT
• NM_001351834.2:c.3173G>A
• NP_000042.3:p.Trp1058Ter
• NP_000042.3:p.Trp1058Ter
• NP_001338763.1:p.Trp1058Ter
• LRG_135t1:c.3173G>A
• LRG_135:g.54910G>A
• LRG_135p1:p.Trp1058Ter
• NC_000011.9:g.108143468G>A
• NM_000051.3:c.3173G>A

This HGVS expression did not pass validation

Protein change:

W1058*

Molecular consequence:

• NM_000051.4:c.3173G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001351834.2:c.3173G>A - nonsense - [Sequence Ontology: SO:0001587]