ClinVar

NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu)

Gene:

STIL:STIL centriolar assembly protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p33

Genomic location:

• Chr1: 47251422 (on Assembly GRCh38)
• Chr1: 47717094 (on Assembly GRCh37)

Preferred name:

NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu)

HGVS:

• NC_000001.11:g.47251422G>A
• NG_012126.1:g.67726C>T
• NM_001048166.1:c.3581C>TMANE SELECT
• NM_001282936.1:c.3578C>T
• NM_001282937.1:c.3527C>T
• NM_001282938.1:c.3440C>T
• NM_001282939.1:c.3386C>T
• NM_003035.2:c.3578C>T
• NP_001041631.1:p.Pro1194Leu
• NP_001269865.1:p.Pro1193Leu
• NP_001269866.1:p.Pro1176Leu
• NP_001269867.1:p.Pro1147Leu
• NP_001269868.1:p.Pro1129Leu
• NP_003026.2:p.Pro1193Leu
• NC_000001.10:g.47717094G>A
• NM_001048166.1:c.3581C>T

This HGVS expression did not pass validation

Protein change:

P1129L

Links:

dbSNP: rs144746030

NCBI 1000 Genomes Browser:

rs144746030

Molecular consequence:

• NM_001048166.1:c.3581C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282936.1:c.3578C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282937.1:c.3527C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282938.1:c.3440C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282939.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003035.2:c.3578C>T - missense variant - [Sequence Ontology: SO:0001583]