ClinVar

NM_001077663.3(URGCP):c.424G>A (p.Ala142Thr)

Genes:

URGCP-MRPS24:URGCP-MRPS24 readthrough [Gene - HGNC]
URGCP:upregulator of cell proliferation [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 43879039 (on Assembly GRCh38)
• Chr7: 43918638 (on Assembly GRCh37)

Preferred name:

NM_001077663.3(URGCP):c.424G>A (p.Ala142Thr)

HGVS:

• NC_000007.14:g.43879039C>T
• NM_001077663.3:c.424G>AMANE SELECT
• NM_001077664.3:c.295G>A
• NM_001204871.2:c.175+2620G>A
• NM_001290075.2:c.295G>A
• NM_001290076.2:c.295G>A
• NM_017920.5:c.397G>A
• NP_001071131.1:p.Ala142Thr
• NP_001071132.1:p.Ala99Thr
• NP_001277004.1:p.Ala99Thr
• NP_001277005.1:p.Ala99Thr
• NP_060390.3:p.Ala133Thr
• NC_000007.13:g.43918638C>T
• NM_001077663.1:c.424G>A

This HGVS expression did not pass validation

Protein change:

A133T

Molecular consequence:

• NM_001204871.2:c.175+2620G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001077663.3:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077664.3:c.295G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290075.2:c.295G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290076.2:c.295G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_017920.5:c.397G>A - missense variant - [Sequence Ontology: SO:0001583]