ClinVar

NM_014956.5(CEP164):c.380C>T (p.Pro127Leu)

Gene:

CEP164:centrosomal protein 164 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 117351975 (on Assembly GRCh38)
• Chr11: 117222691 (on Assembly GRCh37)

Preferred name:

NM_014956.5(CEP164):c.380C>T (p.Pro127Leu)

HGVS:

• NC_000011.10:g.117351975C>T
• NG_033032.1:g.35198C>T
• NM_001271933.2:c.380C>T
• NM_014956.5:c.380C>TMANE SELECT
• NP_001258862.1:p.Pro127Leu
• NP_055771.4:p.Pro127Leu
• NC_000011.9:g.117222691C>T
• NM_014956.4:c.380C>T

This HGVS expression did not pass validation

Protein change:

P127L

Links:

dbSNP: rs143659874

NCBI 1000 Genomes Browser:

rs143659874

Molecular consequence:

• NM_001271933.2:c.380C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014956.5:c.380C>T - missense variant - [Sequence Ontology: SO:0001583]