ClinVar

NM_000051.4(ATM):c.7867C>T (p.Leu2623Phe)

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: 108332840 (on Assembly GRCh38)
• Chr11: 108203567 (on Assembly GRCh37)

Preferred name:

NM_000051.4(ATM):c.7867C>T (p.Leu2623Phe)

HGVS:

• NC_000011.10:g.108332840C>T
• NG_009830.1:g.115009C>T
• NG_054724.1:g.141993G>A
• NM_000051.4:c.7867C>TMANE SELECT
• NM_001330368.2:c.641-23769G>A
• NM_001351110.2:c.*38+2380G>A
• NM_001351834.2:c.7867C>T
• NP_000042.3:p.Leu2623Phe
• NP_000042.3:p.Leu2623Phe
• NP_001338763.1:p.Leu2623Phe
• LRG_135t1:c.7867C>T
• LRG_135:g.115009C>T
• LRG_135p1:p.Leu2623Phe
• NC_000011.9:g.108203567C>T
• NC_000011.9:g.108203567C>T
• NM_000051.3:c.7867C>T

This HGVS expression did not pass validation

Protein change:

L2623F

Links:

dbSNP: rs774118570

NCBI 1000 Genomes Browser:

rs774118570

Molecular consequence:

• NM_001330368.2:c.641-23769G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351110.2:c.*38+2380G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000051.4:c.7867C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351834.2:c.7867C>T - missense variant - [Sequence Ontology: SO:0001583]