ClinVar

NM_022455.5(NSD1):c.3460G>A (p.Val1154Met)

Gene:

NSD1:nuclear receptor binding SET domain protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.3

Genomic location:

• Chr5: 177211859 (on Assembly GRCh38)
• Chr5: 176638860 (on Assembly GRCh37)

Preferred name:

NM_022455.5(NSD1):c.3460G>A (p.Val1154Met)

HGVS:

• NC_000005.10:g.177211859G>A
• NG_009821.1:g.83781G>A
• NM_001365684.2:c.2587G>A
• NM_001409301.1:c.3460G>A
• NM_001409302.1:c.3460G>A
• NM_001409303.1:c.3460G>A
• NM_001409304.1:c.3040G>A
• NM_001409305.1:c.2707G>A
• NM_001409306.1:c.2587G>A
• NM_001409307.1:c.2587G>A
• NM_001409308.1:c.2587G>A
• NM_001409309.1:c.2587G>A
• NM_022455.5:c.3460G>AMANE SELECT
• NM_172349.5:c.2587G>A
• NP_001352613.1:p.Val885Met
• NP_001352613.2:p.Val863Met
• NP_001396230.1:p.Val1154Met
• NP_001396231.1:p.Val1154Met
• NP_001396232.1:p.Val1154Met
• NP_001396233.1:p.Val1014Met
• NP_001396234.1:p.Val903Met
• NP_001396235.1:p.Val863Met
• NP_001396236.1:p.Val863Met
• NP_001396237.1:p.Val863Met
• NP_001396238.1:p.Val863Met
• NP_071900.2:p.Val1154Met
• NP_071900.2:p.Val1154Met
• NP_758859.1:p.Val885Met
• NP_758859.2:p.Val863Met
• LRG_512t1:c.3460G>A
• LRG_512:g.83781G>A
• LRG_512p1:p.Val1154Met
• NC_000005.9:g.176638860G>A
• NM_001365684.1:c.2653G>A
• NM_022455.4:c.3460G>A
• NM_172349.3:c.2653G>A

This HGVS expression did not pass validation

Protein change:

V1014M

Links:

dbSNP: rs1001657669

NCBI 1000 Genomes Browser:

rs1001657669

Molecular consequence:

• NM_001365684.2:c.2587G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409301.1:c.3460G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409302.1:c.3460G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409303.1:c.3460G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409304.1:c.3040G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409305.1:c.2707G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409306.1:c.2587G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409307.1:c.2587G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409308.1:c.2587G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409309.1:c.2587G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022455.5:c.3460G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172349.5:c.2587G>A - missense variant - [Sequence Ontology: SO:0001583]