ClinVar

NM_000051.4(ATM):c.7875T>G (p.Asp2625Glu)

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: 108332848 (on Assembly GRCh38)
• Chr11: 108203575 (on Assembly GRCh37)

Preferred name:

NM_000051.4(ATM):c.7875T>G (p.Asp2625Glu)

HGVS:

• NC_000011.10:g.108332848T>G
• NG_009830.1:g.115017T>G
• NG_054724.1:g.141985A>C
• NM_000051.4:c.7875T>GMANE SELECT
• NM_001330368.2:c.641-23777A>C
• NM_001351110.2:c.*38+2372A>C
• NM_001351834.2:c.7875T>G
• NP_000042.3:p.Asp2625Glu
• NP_000042.3:p.Asp2625Glu
• NP_001338763.1:p.Asp2625Glu
• LRG_135t1:c.7875T>G
• LRG_135:g.115017T>G
• LRG_135p1:p.Asp2625Glu
• NC_000011.9:g.108203575T>G
• NM_000051.3:c.7875T>G

This HGVS expression did not pass validation

Protein change:

D2625E

Links:

dbSNP: rs1196903858

NCBI 1000 Genomes Browser:

rs1196903858

Molecular consequence:

• NM_001330368.2:c.641-23777A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351110.2:c.*38+2372A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000051.4:c.7875T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351834.2:c.7875T>G - missense variant - [Sequence Ontology: SO:0001583]