ClinVar

NM_016553.5(NUP62):c.249G>T (p.Ser83=)

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: 49909559 (on Assembly GRCh38)
• Chr19: 50412816 (on Assembly GRCh37)

Preferred name:

NM_016553.5(NUP62):c.249G>T (p.Ser83=)

HGVS:

• NC_000019.10:g.49909559C>A
• NG_021170.1:g.24947G>T
• NG_023448.1:g.25173G>T
• NM_001193357.2:c.249G>T
• NM_001258017.2:c.-227-5238G>T
• NM_001258018.2:c.-285-5238G>T
• NM_012346.5:c.249G>T
• NM_016553.5:c.249G>TMANE SELECT
• NM_153718.4:c.249G>T
• NM_153719.4:c.249G>T
• NM_172374.3:c.-227-5238G>T
• NP_001180286.1:p.Ser83=
• NP_036478.2:p.Ser83=
• NP_057637.2:p.Ser83=
• NP_714940.1:p.Ser83=
• NP_714941.1:p.Ser83=
• NC_000019.9:g.50412816C>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001258017.2:c.-227-5238G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001258018.2:c.-285-5238G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_172374.3:c.-227-5238G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001193357.2:c.249G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_012346.5:c.249G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_016553.5:c.249G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153718.4:c.249G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153719.4:c.249G>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1