ClinVar

NM_000051.4(ATM):c.5685C>T (p.His1895=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q22.3

Genomic location:

• Chr11: 108307907 (on Assembly GRCh38)
• Chr11: 108178634 (on Assembly GRCh37)

Preferred name:

NM_000051.4(ATM):c.5685C>T (p.His1895=)

HGVS:

• NC_000011.10:g.108307907C>T
• NG_009830.1:g.90076C>T
• NG_054724.1:g.166926G>A
• NM_000051.4:c.5685C>TMANE SELECT
• NM_001351834.2:c.5685C>T
• NP_000042.3:p.His1895=
• NP_000042.3:p.His1895=
• NP_001338763.1:p.His1895=
• LRG_135t1:c.5685C>T
• LRG_135:g.90076C>T
• LRG_135p1:p.His1895=
• NC_000011.9:g.108178634C>T
• NM_000051.3:c.5685C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs889445709

NCBI 1000 Genomes Browser:

rs889445709

Molecular consequence:

• NM_000051.4:c.5685C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351834.2:c.5685C>T - synonymous variant - [Sequence Ontology: SO:0001819]