ClinVar

NM_000051.4(ATM):c.7928-3C>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: 108333883 (on Assembly GRCh38)
• Chr11: 108204610 (on Assembly GRCh37)

Preferred name:

NM_000051.4(ATM):c.7928-3C>T

HGVS:

• NC_000011.10:g.108333883C>T
• NG_009830.1:g.116052C>T
• NG_054724.1:g.140950G>A
• NM_000051.4:c.7928-3C>TMANE SELECT
• NM_001330368.2:c.641-24812G>A
• NM_001351110.2:c.*38+1337G>A
• NM_001351834.2:c.7928-3C>T
• LRG_135t1:c.7928-3C>T
• LRG_135:g.116052C>T
• NC_000011.9:g.108204610C>T
• NM_000051.3:c.7928-3C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1555126153

NCBI 1000 Genomes Browser:

rs1555126153

Molecular consequence:

• NM_000051.4:c.7928-3C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001330368.2:c.641-24812G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351110.2:c.*38+1337G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351834.2:c.7928-3C>T - intron variant - [Sequence Ontology: SO:0001627]