ClinVar

NM_000051.4(ATM):c.6147T>C (p.Tyr2049=)

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: 108316062 (on Assembly GRCh38)
• Chr11: 108186789 (on Assembly GRCh37)

Preferred name:

NM_000051.4(ATM):c.6147T>C (p.Tyr2049=)

HGVS:

• NC_000011.10:g.108316062T>C
• NG_009830.1:g.98231T>C
• NG_054724.1:g.158771A>G
• NM_000051.4:c.6147T>CMANE SELECT
• NM_001330368.2:c.641-6991A>G
• NM_001351110.2:c.*39-6991A>G
• NM_001351834.2:c.6147T>C
• NP_000042.3:p.Tyr2049=
• NP_000042.3:p.Tyr2049=
• NP_001338763.1:p.Tyr2049=
• LRG_135t1:c.6147T>C
• LRG_135:g.98231T>C
• LRG_135p1:p.Tyr2049=
• NC_000011.9:g.108186789T>C
• NM_000051.3:c.6147T>C
• p.Y2049Y

This HGVS expression did not pass validation

Links:

dbSNP: rs369940136

NCBI 1000 Genomes Browser:

rs369940136

Molecular consequence:

• NM_001330368.2:c.641-6991A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351110.2:c.*39-6991A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_000051.4:c.6147T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351834.2:c.6147T>C - synonymous variant - [Sequence Ontology: SO:0001819]