ClinVar

NM_000051.4(ATM):c.6007-33C>T

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: 108315790 (on Assembly GRCh38)
• Chr11: 108186517 (on Assembly GRCh37)

Preferred name:

NM_000051.4(ATM):c.6007-33C>T

HGVS:

• NC_000011.10:g.108315790C>T
• NG_009830.1:g.97959C>T
• NG_054724.1:g.159043G>A
• NM_000051.4:c.6007-33C>TMANE SELECT
• NM_001330368.2:c.641-6719G>A
• NM_001351110.2:c.*39-6719G>A
• NM_001351834.2:c.6007-33C>T
• LRG_135:g.97959C>T
• NC_000011.9:g.108186517C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1191788183

NCBI 1000 Genomes Browser:

rs1191788183

Molecular consequence:

• NM_000051.4:c.6007-33C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001330368.2:c.641-6719G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351110.2:c.*39-6719G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351834.2:c.6007-33C>T - intron variant - [Sequence Ontology: SO:0001627]