ClinVar

NM_001382391.1(CSPP1):c.3109G>A (p.Val1037Ile)

Genes:

ARFGEF1:ARF guanine nucleotide exchange factor 1 [Gene - OMIM - HGNC]
CSPP1:centrosome and spindle pole associated protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q13.2

Genomic location:

• Chr8: 67175436 (on Assembly GRCh38)
• Chr8: 68087671 (on Assembly GRCh37)

Preferred name:

NM_001382391.1(CSPP1):c.3109G>A (p.Val1037Ile)

HGVS:

• NC_000008.11:g.67175436G>A
• NG_034100.1:g.116069G>A
• NM_001291339.2:c.2059G>A
• NM_001363131.2:c.3028G>A
• NM_001363132.2:c.2914G>A
• NM_001363133.2:c.2833G>A
• NM_001364869.1:c.3175G>A
• NM_001364870.1:c.2995G>A
• NM_001382391.1:c.3109G>AMANE SELECT
• NM_024790.6:c.3094G>A
• NP_001278268.1:p.Val687Ile
• NP_001350060.1:p.Val1010Ile
• NP_001350061.1:p.Val972Ile
• NP_001350062.1:p.Val945Ile
• NP_001351798.1:p.Val1059Ile
• NP_001351799.1:p.Val999Ile
• NP_001369320.1:p.Val1037Ile
• NP_079066.5:p.Val1032Ile
• NC_000008.10:g.68087671G>A

This HGVS expression did not pass validation

Protein change:

V1010I

Links:

dbSNP: rs200546493

NCBI 1000 Genomes Browser:

rs200546493

Molecular consequence:

• NM_001291339.2:c.2059G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363131.2:c.3028G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363132.2:c.2914G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363133.2:c.2833G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364869.1:c.3175G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364870.1:c.2995G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382391.1:c.3109G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024790.6:c.3094G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2