ClinVar

NM_022455.5(NSD1):c.6651G>T (p.Glu2217Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.3

Genomic location:

• Chr5: 177294019 (on Assembly GRCh38)
• Chr5: 176721020 (on Assembly GRCh37)

Preferred name:

NM_022455.5(NSD1):c.6651G>T (p.Glu2217Asp)

HGVS:

• NC_000005.10:g.177294019G>T
• NG_009821.1:g.165941G>T
• NM_001365684.2:c.5778G>T
• NM_001409301.1:c.6651G>T
• NM_001409302.1:c.6651G>T
• NM_001409303.1:c.6651G>T
• NM_001409304.1:c.6231G>T
• NM_001409305.1:c.5898G>T
• NM_001409306.1:c.5889G>T
• NM_001409307.1:c.5889G>T
• NM_001409308.1:c.5778G>T
• NM_001409309.1:c.5529G>T
• NM_022455.5:c.6651G>TMANE SELECT
• NM_172349.5:c.5778G>T
• NP_001352613.1:p.Glu1948Asp
• NP_001352613.2:p.Glu1926Asp
• NP_001396230.1:p.Glu2217Asp
• NP_001396231.1:p.Glu2217Asp
• NP_001396232.1:p.Glu2217Asp
• NP_001396233.1:p.Glu2077Asp
• NP_001396234.1:p.Glu1966Asp
• NP_001396235.1:p.Glu1963Asp
• NP_001396236.1:p.Glu1963Asp
• NP_001396237.1:p.Glu1926Asp
• NP_001396238.1:p.Glu1843Asp
• NP_071900.2:p.Glu2217Asp
• NP_071900.2:p.Glu2217Asp
• NP_758859.1:p.Glu1948Asp
• NP_758859.2:p.Glu1926Asp
• LRG_512t1:c.6651G>T
• LRG_512:g.165941G>T
• LRG_512p1:p.Glu2217Asp
• NC_000005.9:g.176721020G>T
• NM_001365684.1:c.5844G>T
• NM_022455.4:c.6651G>T
• NM_172349.3:c.5844G>T

This HGVS expression did not pass validation

Protein change:

E1843D

Links:

dbSNP: rs1760069281

NCBI 1000 Genomes Browser:

rs1760069281

Molecular consequence:

• NM_001365684.2:c.5778G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409301.1:c.6651G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409302.1:c.6651G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409303.1:c.6651G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409304.1:c.6231G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409305.1:c.5898G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409306.1:c.5889G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409307.1:c.5889G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409308.1:c.5778G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409309.1:c.5529G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022455.5:c.6651G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172349.5:c.5778G>T - missense variant - [Sequence Ontology: SO:0001583]