ClinVar

NM_001194998.2(CEP152):c.5115A>G (p.Pro1705=)

Gene:

CEP152:centrosomal protein 152 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

• Chr15: 48738267 (on Assembly GRCh38)
• Chr15: 49030464 (on Assembly GRCh37)

Preferred name:

NM_001194998.2(CEP152):c.5115A>G (p.Pro1705=)

HGVS:

• NC_000015.10:g.48738267T>C
• NG_027518.2:g.77880A>G
• NM_001194998.1:c.5115A>G
• NM_001194998.2:c.5115A>GMANE SELECT
• NM_014985.4:c.4947A>G
• NP_001181927.1:p.Pro1705=
• NP_055800.2:p.Pro1649=
• NC_000015.9:g.49030464T>C
• NG_027518.1:g.77880A>G
• NM_014985.3:c.4947A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs1048042

NCBI 1000 Genomes Browser:

rs1048042

Molecular consequence:

• NM_001194998.2:c.5115A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_014985.4:c.4947A>G - synonymous variant - [Sequence Ontology: SO:0001819]