ClinVar

NM_000051.4(ATM):c.6976-272A>G

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: 108327373 (on Assembly GRCh38)
• Chr11: 108198100 (on Assembly GRCh37)

Preferred name:

NM_000051.4(ATM):c.6976-272A>G

HGVS:

• NC_000011.10:g.108327373A>G
• NG_009830.1:g.109542A>G
• NG_054724.1:g.147460T>C
• NM_000051.4:c.6976-272A>GMANE SELECT
• NM_001330368.2:c.641-18302T>C
• NM_001351110.2:c.*38+7847T>C
• NM_001351834.2:c.6976-272A>G
• LRG_135:g.109542A>G
• NC_000011.9:g.108198100A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs368002466

NCBI 1000 Genomes Browser:

rs368002466

Molecular consequence:

• NM_000051.4:c.6976-272A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001330368.2:c.641-18302T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351110.2:c.*38+7847T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351834.2:c.6976-272A>G - intron variant - [Sequence Ontology: SO:0001627]