ClinVar

NM_016320.5(NUP98):c.4283C>T (p.Ala1428Val)

Gene:

NUP98:nucleoporin 98 and 96 precursor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 3693260 (on Assembly GRCh38)
• Chr11: 3714490 (on Assembly GRCh37)

Preferred name:

NM_016320.5(NUP98):c.4283C>T (p.Ala1428Val)

HGVS:

• NC_000011.10:g.3693260G>A
• NM_001365125.2:c.4376C>T
• NM_001365126.2:c.4334C>T
• NM_001365127.2:c.4259C>T
• NM_001365128.2:c.4232C>T
• NM_001365129.2:c.4142C>T
• NM_016320.5:c.4283C>TMANE SELECT
• NM_139132.4:c.4283C>T
• NP_001352054.1:p.Ala1459Val
• NP_001352055.1:p.Ala1445Val
• NP_001352056.1:p.Ala1420Val
• NP_001352057.1:p.Ala1411Val
• NP_001352058.1:p.Ala1381Val
• NP_057404.2:p.Ala1428Val
• NP_624358.2:p.Ala1428Val
• NC_000011.9:g.3714490G>A
• NM_139132.3:c.4283C>T
• NR_157589.2:n.4466C>T
• NR_157590.2:n.4236C>T
• NR_157591.1:n.4509C>T

This HGVS expression did not pass validation

Protein change:

A1381V

Links:

dbSNP: rs137931987

NCBI 1000 Genomes Browser:

rs137931987

Molecular consequence:

• NM_001365125.2:c.4376C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365126.2:c.4334C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365127.2:c.4259C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365128.2:c.4232C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365129.2:c.4142C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016320.5:c.4283C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_139132.4:c.4283C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_157589.2:n.4466C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_157590.2:n.4236C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_157591.1:n.4509C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]