ClinVar

NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.3

Genomic location:

• Chr5: 177211793 (on Assembly GRCh38)
• Chr5: 176638794 (on Assembly GRCh37)

Preferred name:

NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg)

HGVS:

• NC_000005.10:g.177211793G>A
• NG_009821.1:g.83715G>A
• NM_001365684.2:c.2521G>A
• NM_001409301.1:c.3394G>A
• NM_001409302.1:c.3394G>A
• NM_001409303.1:c.3394G>A
• NM_001409304.1:c.2974G>A
• NM_001409305.1:c.2641G>A
• NM_001409306.1:c.2521G>A
• NM_001409307.1:c.2521G>A
• NM_001409308.1:c.2521G>A
• NM_001409309.1:c.2521G>A
• NM_022455.5:c.3394G>AMANE SELECT
• NM_172349.5:c.2521G>A
• NP_001352613.1:p.Gly863Arg
• NP_001352613.2:p.Gly841Arg
• NP_001396230.1:p.Gly1132Arg
• NP_001396231.1:p.Gly1132Arg
• NP_001396232.1:p.Gly1132Arg
• NP_001396233.1:p.Gly992Arg
• NP_001396234.1:p.Gly881Arg
• NP_001396235.1:p.Gly841Arg
• NP_001396236.1:p.Gly841Arg
• NP_001396237.1:p.Gly841Arg
• NP_001396238.1:p.Gly841Arg
• NP_071900.2:p.Gly1132Arg
• NP_071900.2:p.Gly1132Arg
• NP_758859.1:p.Gly863Arg
• NP_758859.2:p.Gly841Arg
• LRG_512t1:c.3394G>A
• LRG_512:g.83715G>A
• LRG_512p1:p.Gly1132Arg
• NC_000005.9:g.176638794G>A
• NM_001365684.1:c.2587G>A
• NM_022455.4:c.3394G>A
• NM_172349.3:c.2587G>A

This HGVS expression did not pass validation

Protein change:

G1132R

Links:

dbSNP: rs570278983

NCBI 1000 Genomes Browser:

rs570278983

Molecular consequence:

• NM_001365684.2:c.2521G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409301.1:c.3394G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409302.1:c.3394G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409303.1:c.3394G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409304.1:c.2974G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409305.1:c.2641G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409306.1:c.2521G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409307.1:c.2521G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409308.1:c.2521G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001409309.1:c.2521G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022455.5:c.3394G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172349.5:c.2521G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1