ClinVar

NM_001382391.1(CSPP1):c.1693G>A (p.Val565Ile)

Gene:

CSPP1:centrosome and spindle pole associated protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q13.2

Genomic location:

• Chr8: 67118817 (on Assembly GRCh38)
• Chr8: 68031052 (on Assembly GRCh37)

Preferred name:

NM_001382391.1(CSPP1):c.1693G>A (p.Val565Ile)

HGVS:

• NC_000008.11:g.67118817G>A
• NG_034100.1:g.59450G>A
• NM_001291339.2:c.796G>A
• NM_001363131.2:c.1612G>A
• NM_001363132.2:c.1651G>A
• NM_001363133.2:c.1570G>A
• NM_001364869.1:c.1759G>A
• NM_001364870.1:c.1579G>A
• NM_001382391.1:c.1693G>AMANE SELECT
• NM_024790.6:c.1678G>A
• NP_001278268.1:p.Val266Ile
• NP_001350060.1:p.Val538Ile
• NP_001350061.1:p.Val551Ile
• NP_001350062.1:p.Val524Ile
• NP_001351798.1:p.Val587Ile
• NP_001351799.1:p.Val527Ile
• NP_001369320.1:p.Val565Ile
• NP_079066.5:p.Val560Ile
• NC_000008.10:g.68031052G>A

This HGVS expression did not pass validation

Protein change:

V266I

Links:

dbSNP: rs199608505

NCBI 1000 Genomes Browser:

rs199608505

Molecular consequence:

• NM_001291339.2:c.796G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363131.2:c.1612G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363132.2:c.1651G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363133.2:c.1570G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364869.1:c.1759G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364870.1:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382391.1:c.1693G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024790.6:c.1678G>A - missense variant - [Sequence Ontology: SO:0001583]