ClinVar

NM_022455.5(NSD1):c.3393C>T (p.Asn1131=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.3

Genomic location:

• Chr5: 177211792 (on Assembly GRCh38)
• Chr5: 176638793 (on Assembly GRCh37)

Preferred name:

NM_022455.5(NSD1):c.3393C>T (p.Asn1131=)

HGVS:

• NC_000005.10:g.177211792C>T
• NG_009821.1:g.83714C>T
• NM_001365684.2:c.2520C>T
• NM_001409301.1:c.3393C>T
• NM_001409302.1:c.3393C>T
• NM_001409303.1:c.3393C>T
• NM_001409304.1:c.2973C>T
• NM_001409305.1:c.2640C>T
• NM_001409306.1:c.2520C>T
• NM_001409307.1:c.2520C>T
• NM_001409308.1:c.2520C>T
• NM_001409309.1:c.2520C>T
• NM_022455.5:c.3393C>TMANE SELECT
• NM_172349.5:c.2520C>T
• NP_001352613.2:p.Asn840=
• NP_001396230.1:p.Asn1131=
• NP_001396231.1:p.Asn1131=
• NP_001396232.1:p.Asn1131=
• NP_001396233.1:p.Asn991=
• NP_001396234.1:p.Asn880=
• NP_001396235.1:p.Asn840=
• NP_001396236.1:p.Asn840=
• NP_001396237.1:p.Asn840=
• NP_001396238.1:p.Asn840=
• NP_071900.2:p.Asn1131=
• NP_071900.2:p.Asn1131=
• NP_758859.2:p.Asn840=
• LRG_512t1:c.3393C>T
• LRG_512:g.83714C>T
• LRG_512p1:p.Asn1131=
• NC_000005.9:g.176638793C>T
• NM_022455.4:c.3393C>T
• NP_071900.2:p.(=)

This HGVS expression did not pass validation

Links:

dbSNP: rs150296373

NCBI 1000 Genomes Browser:

rs150296373

Molecular consequence:

• NM_001365684.2:c.2520C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001409301.1:c.3393C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001409302.1:c.3393C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001409303.1:c.3393C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001409304.1:c.2973C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001409305.1:c.2640C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001409306.1:c.2520C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001409307.1:c.2520C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001409308.1:c.2520C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001409309.1:c.2520C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022455.5:c.3393C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172349.5:c.2520C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2