ClinVar

NM_001077663.3(URGCP):c.2280C>T (p.Ala760=)

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: 43877183 (on Assembly GRCh38)
• Chr7: 43916782 (on Assembly GRCh37)

Preferred name:

NM_001077663.3(URGCP):c.2280C>T (p.Ala760=)

HGVS:

• NC_000007.14:g.43877183G>A
• NM_001077663.3:c.2280C>TMANE SELECT
• NM_001077664.3:c.2151C>T
• NM_001204871.2:c.175+4476C>T
• NM_001290075.2:c.2151C>T
• NM_001290076.2:c.2151C>T
• NM_017920.5:c.2253C>T
• NP_001071131.1:p.Ala760=
• NP_001071131.1:p.Ala760=
• NP_001071132.1:p.Ala717=
• NP_001277004.1:p.Ala717=
• NP_001277005.1:p.Ala717=
• NP_060390.3:p.Ala751=
• NC_000007.13:g.43916782G>A
• NM_001077663.2:c.2280C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2232107

NCBI 1000 Genomes Browser:

rs2232107

Molecular consequence:

• NM_001204871.2:c.175+4476C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001077663.3:c.2280C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001077664.3:c.2151C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001290075.2:c.2151C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001290076.2:c.2151C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_017920.5:c.2253C>T - synonymous variant - [Sequence Ontology: SO:0001819]