ClinVar

NM_016320.5(NUP98):c.5181G>C (p.Gln1727His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 3676513 (on Assembly GRCh38)
• Chr11: 3697743 (on Assembly GRCh37)

Preferred name:

NM_016320.5(NUP98):c.5181G>C (p.Gln1727His)

HGVS:

• NC_000011.10:g.3676513C>G
• NM_001365125.2:c.5274G>C
• NM_001365126.2:c.5232G>C
• NM_001365127.2:c.5157G>C
• NM_001365128.2:c.5130G>C
• NM_001365129.2:c.5040G>C
• NM_005387.3:c.*62G>C
• NM_016320.5:c.5181G>CMANE SELECT
• NM_139132.4:c.4959G>C
• NP_001352054.1:p.Gln1758His
• NP_001352055.1:p.Gln1744His
• NP_001352056.1:p.Gln1719His
• NP_001352057.1:p.Gln1710His
• NP_001352058.1:p.Gln1680His
• NP_057404.2:p.Gln1727His
• NP_624358.2:p.Gln1653His
• NC_000011.9:g.3697743C>G
• NM_016320.4:c.5181G>C
• NR_157589.2:n.5209G>C
• NR_157590.2:n.5134G>C
• NR_157591.1:n.5252G>C

This HGVS expression did not pass validation

Protein change:

Q1653H

Molecular consequence:

• NM_001365125.2:c.5274G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365126.2:c.5232G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365127.2:c.5157G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365128.2:c.5130G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365129.2:c.5040G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_016320.5:c.5181G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_139132.4:c.4959G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_157589.2:n.5209G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_157590.2:n.5134G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_157591.1:n.5252G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]