ClinVar

NM_000051.4(ATM):c.2639-3T>C

Gene:

ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q22.3

Genomic location:

• Chr11: 108268407 (on Assembly GRCh38)
• Chr11: 108139134 (on Assembly GRCh37)

Preferred name:

NM_000051.4(ATM):c.2639-3T>C

HGVS:

• NC_000011.10:g.108268407T>C
• NG_009830.1:g.50576T>C
• NM_000051.4:c.2639-3T>CMANE SELECT
• NM_001351834.2:c.2639-3T>C
• LRG_135t1:c.2639-3T>C
• LRG_135:g.50576T>C
• NC_000011.9:g.108139134T>C
• NM_000051.3:c.2639-3T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs1410247657

NCBI 1000 Genomes Browser:

rs1410247657

Molecular consequence:

• NM_000051.4:c.2639-3T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351834.2:c.2639-3T>C - intron variant - [Sequence Ontology: SO:0001627]