ClinVar

NM_000051.4(ATM):c.4437-9C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q22.3

Genomic location:

• Chr11: 108292610 (on Assembly GRCh38)
• Chr11: 108163337 (on Assembly GRCh37)

Preferred name:

NM_000051.4(ATM):c.4437-9C>T

HGVS:

• NC_000011.10:g.108292610C>T
• NG_009830.1:g.74779C>T
• NM_000051.4:c.4437-9C>TMANE SELECT
• NM_001351834.2:c.4437-9C>T
• LRG_135t1:c.4437-9C>T
• LRG_135:g.74779C>T
• NC_000011.9:g.108163337C>T
• NM_000051.3:c.4437-9C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs766003804

NCBI 1000 Genomes Browser:

rs766003804

Molecular consequence:

• NM_000051.4:c.4437-9C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351834.2:c.4437-9C>T - intron variant - [Sequence Ontology: SO:0001627]