ClinVar

NM_001197104.2(KMT2A):c.3019G>T (p.Gly1007Cys)

Gene:

KMT2A:lysine methyltransferase 2A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 118474178 (on Assembly GRCh38)
• Chr11: 118344893 (on Assembly GRCh37)

Preferred name:

NM_001197104.2(KMT2A):c.3019G>T (p.Gly1007Cys)

HGVS:

• NC_000011.10:g.118474178G>T
• NG_027813.1:g.42689G>T
• NM_001197104.2:c.3019G>TMANE SELECT
• NM_005933.4:c.3019G>T
• NP_001184033.1:p.Gly1007Cys
• NP_001184033.1:p.Gly1007Cys
• NP_005924.2:p.Gly1007Cys
• LRG_613t1:c.3019G>T
• LRG_613:g.42689G>T
• LRG_613p1:p.Gly1007Cys
• NC_000011.9:g.118344893G>T
• NM_001197104.1:c.3019G>T

This HGVS expression did not pass validation

Protein change:

G1007C

Links:

dbSNP: rs940325244

NCBI 1000 Genomes Browser:

rs940325244

Molecular consequence:

• NM_001197104.2:c.3019G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005933.4:c.3019G>T - missense variant - [Sequence Ontology: SO:0001583]