ClinVar

NM_001382391.1(CSPP1):c.3221-19C>T

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: 67190631 (on Assembly GRCh38)
• Chr8: 68102866 (on Assembly GRCh37)

Preferred name:

NM_001382391.1(CSPP1):c.3221-19C>T

HGVS:

• NC_000008.11:g.67190631C>T
• NG_034100.1:g.131264C>T
• NM_001291339.2:c.2171-19C>T
• NM_001363131.2:c.3140-19C>T
• NM_001363132.2:c.3026-19C>T
• NM_001363133.2:c.2945-19C>T
• NM_001364869.1:c.3287-19C>T
• NM_001364870.1:c.3107-19C>T
• NM_001382391.1:c.3221-19C>TMANE SELECT
• NM_024790.6:c.3206-19C>T
• NC_000008.10:g.68102866C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs750846829

NCBI 1000 Genomes Browser:

rs750846829

Molecular consequence:

• NM_001291339.2:c.2171-19C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363131.2:c.3140-19C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363132.2:c.3026-19C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363133.2:c.2945-19C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001364869.1:c.3287-19C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001364870.1:c.3107-19C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001382391.1:c.3221-19C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_024790.6:c.3206-19C>T - intron variant - [Sequence Ontology: SO:0001627]