ClinVar

NM_001077663.3(URGCP):c.2649C>T (p.His883=)

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: 43876814 (on Assembly GRCh38)
• Chr7: 43916413 (on Assembly GRCh37)

Preferred name:

NM_001077663.3(URGCP):c.2649C>T (p.His883=)

HGVS:

• NC_000007.14:g.43876814G>A
• NM_001077663.3:c.2649C>TMANE SELECT
• NM_001077664.3:c.2520C>T
• NM_001204871.2:c.175+4845C>T
• NM_001290075.2:c.2520C>T
• NM_001290076.2:c.2520C>T
• NM_017920.5:c.2622C>T
• NP_001071131.1:p.His883=
• NP_001071131.1:p.His883=
• NP_001071132.1:p.His840=
• NP_001277004.1:p.His840=
• NP_001277005.1:p.His840=
• NP_060390.3:p.His874=
• NC_000007.13:g.43916413G>A
• NM_001077663.2:c.2649C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs61732517

NCBI 1000 Genomes Browser:

rs61732517

Molecular consequence:

• NM_001204871.2:c.175+4845C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001077663.3:c.2649C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001077664.3:c.2520C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001290075.2:c.2520C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001290076.2:c.2520C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_017920.5:c.2622C>T - synonymous variant - [Sequence Ontology: SO:0001819]