ClinVar

NM_016553.5(NUP62):c.990C>T (p.Tyr330=)

Genes:

IL4I1:interleukin 4 induced 1 [Gene - OMIM - HGNC]
NUP62:nucleoporin 62 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

• Chr19: 49908818 (on Assembly GRCh38)
• Chr19: 50412075 (on Assembly GRCh37)

Preferred name:

NM_016553.5(NUP62):c.990C>T (p.Tyr330=)

HGVS:

• NC_000019.10:g.49908818G>A
• NG_021170.1:g.25688C>T
• NG_023448.1:g.25914C>T
• NM_001193357.2:c.990C>T
• NM_001258017.2:c.-227-4497C>T
• NM_001258018.2:c.-285-4497C>T
• NM_012346.5:c.990C>T
• NM_016553.5:c.990C>TMANE SELECT
• NM_153718.4:c.990C>T
• NM_153719.4:c.990C>T
• NM_172374.3:c.-227-4497C>T
• NP_001180286.1:p.Tyr330=
• NP_036478.2:p.Tyr330=
• NP_057637.2:p.Tyr330=
• NP_714940.1:p.Tyr330=
• NP_714941.1:p.Tyr330=
• NC_000019.9:g.50412075G>A
• NC_000019.9:g.50412075G>A
• NM_153719.3:c.990C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs11547264

NCBI 1000 Genomes Browser:

rs11547264

Molecular consequence:

• NM_001258017.2:c.-227-4497C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001258018.2:c.-285-4497C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_172374.3:c.-227-4497C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001193357.2:c.990C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_012346.5:c.990C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_016553.5:c.990C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153718.4:c.990C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153719.4:c.990C>T - synonymous variant - [Sequence Ontology: SO:0001819]