ClinVar

NM_003796.3(URI1):c.931G>A (p.Asp311Asn)

Gene:

URI1:URI1 prefoldin like chaperone [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q12

Genomic location:

• Chr19: 30009249 (on Assembly GRCh38)
• Chr19: 30500156 (on Assembly GRCh37)

Preferred name:

NM_003796.3(URI1):c.931G>A (p.Asp311Asn)

HGVS:

• NC_000019.10:g.30009249G>A
• NG_047095.1:g.90606G>A
• NM_001252641.2:c.877G>A
• NM_003796.2:c.931G>A
• NM_003796.3:c.931G>AMANE SELECT
• NP_001239570.1:p.Asp293Asn
• NP_003787.2:p.Asp311Asn
• NC_000019.9:g.30500156G>A
• NR_045557.1:n.1205G>A

This HGVS expression did not pass validation

Protein change:

D293N

Molecular consequence:

• NM_001252641.2:c.877G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003796.3:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_045557.1:n.1205G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1