ClinVar

NM_001382391.1(CSPP1):c.3011C>T (p.Pro1004Leu)

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: 67175338 (on Assembly GRCh38)
• Chr8: 68087573 (on Assembly GRCh37)

Preferred name:

NM_001382391.1(CSPP1):c.3011C>T (p.Pro1004Leu)

HGVS:

• NC_000008.11:g.67175338C>T
• NG_034100.1:g.115971C>T
• NM_001291339.2:c.1961C>T
• NM_001363131.2:c.2930C>T
• NM_001363132.2:c.2816C>T
• NM_001363133.2:c.2735C>T
• NM_001364869.1:c.3077C>T
• NM_001364870.1:c.2897C>T
• NM_001382391.1:c.3011C>TMANE SELECT
• NM_024790.6:c.2996C>T
• NP_001278268.1:p.Pro654Leu
• NP_001350060.1:p.Pro977Leu
• NP_001350061.1:p.Pro939Leu
• NP_001350062.1:p.Pro912Leu
• NP_001351798.1:p.Pro1026Leu
• NP_001351799.1:p.Pro966Leu
• NP_001369320.1:p.Pro1004Leu
• NP_079066.5:p.Pro999Leu
• NC_000008.10:g.68087573C>T

This HGVS expression did not pass validation

Protein change:

P1004L

Links:

dbSNP: rs993509179

NCBI 1000 Genomes Browser:

rs993509179

Molecular consequence:

• NM_001291339.2:c.1961C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363131.2:c.2930C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363132.2:c.2816C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363133.2:c.2735C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364869.1:c.3077C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364870.1:c.2897C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382391.1:c.3011C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024790.6:c.2996C>T - missense variant - [Sequence Ontology: SO:0001583]