ClinVar

NM_000051.4(ATM):c.6443A>T (p.Lys2148Ile)

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: 108320049 (on Assembly GRCh38)
• Chr11: 108190776 (on Assembly GRCh37)

Preferred name:

NM_000051.4(ATM):c.6443A>T (p.Lys2148Ile)

Other names:

p.K2148I:AAA>ATA

HGVS:

• NC_000011.10:g.108320049A>T
• NG_009830.1:g.102218A>T
• NG_054724.1:g.154784T>A
• NM_000051.4:c.6443A>TMANE SELECT
• NM_001330368.2:c.641-10978T>A
• NM_001351110.2:c.*39-10978T>A
• NM_001351834.2:c.6443A>T
• NP_000042.3:p.Lys2148Ile
• NP_000042.3:p.Lys2148Ile
• NP_001338763.1:p.Lys2148Ile
• LRG_135t1:c.6443A>T
• LRG_135:g.102218A>T
• LRG_135p1:p.Lys2148Ile
• NC_000011.9:g.108190776A>T
• NM_000051.3:c.6443A>T

This HGVS expression did not pass validation

Protein change:

K2148I

Links:

dbSNP: rs730881382

NCBI 1000 Genomes Browser:

rs730881382

Molecular consequence:

• NM_001330368.2:c.641-10978T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351110.2:c.*39-10978T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000051.4:c.6443A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351834.2:c.6443A>T - missense variant - [Sequence Ontology: SO:0001583]