ClinVar

NM_016553.5(NUP62):c.654G>A (p.Gly218=)

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: 49909154 (on Assembly GRCh38)
• Chr19: 50412411 (on Assembly GRCh37)

Preferred name:

NM_016553.5(NUP62):c.654G>A (p.Gly218=)

HGVS:

• NC_000019.10:g.49909154C>T
• NG_021170.1:g.25352G>A
• NG_023448.1:g.25578G>A
• NM_001193357.2:c.654G>A
• NM_001258017.2:c.-227-4833G>A
• NM_001258018.2:c.-285-4833G>A
• NM_012346.5:c.654G>A
• NM_016553.5:c.654G>AMANE SELECT
• NM_153718.4:c.654G>A
• NM_153719.4:c.654G>A
• NM_172374.3:c.-227-4833G>A
• NP_001180286.1:p.Gly218=
• NP_036478.2:p.Gly218=
• NP_057637.2:p.Gly218=
• NP_714940.1:p.Gly218=
• NP_714941.1:p.Gly218=
• NC_000019.9:g.50412411C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001258017.2:c.-227-4833G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001258018.2:c.-285-4833G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_172374.3:c.-227-4833G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001193357.2:c.654G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_012346.5:c.654G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_016553.5:c.654G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153718.4:c.654G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153719.4:c.654G>A - synonymous variant - [Sequence Ontology: SO:0001819]