ClinVar

NM_000051.4(ATM):c.8010+5T>A

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: 108333973 (on Assembly GRCh38)
• Chr11: 108204700 (on Assembly GRCh37)

Preferred name:

NM_000051.4(ATM):c.8010+5T>A

HGVS:

• NC_000011.10:g.108333973T>A
• NG_009830.1:g.116142T>A
• NG_054724.1:g.140860A>T
• NM_000051.4:c.8010+5T>AMANE SELECT
• NM_001330368.2:c.641-24902A>T
• NM_001351110.2:c.*38+1247A>T
• NM_001351834.2:c.8010+5T>A
• LRG_135t1:c.8010+5T>A
• LRG_135:g.116142T>A
• NC_000011.9:g.108204700T>A
• NM_000051.3:c.8010+5T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs56256497

NCBI 1000 Genomes Browser:

rs56256497

Molecular consequence:

• NM_000051.4:c.8010+5T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001330368.2:c.641-24902A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351110.2:c.*38+1247A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351834.2:c.8010+5T>A - intron variant - [Sequence Ontology: SO:0001627]