ClinVar

NM_018136.5(ASPM):c.5603G>A (p.Arg1868Lys)

Gene:

ASPM:assembly factor for spindle microtubules [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197103648 (on Assembly GRCh38)
• Chr1: 197072778 (on Assembly GRCh37)

Preferred name:

NM_018136.5(ASPM):c.5603G>A (p.Arg1868Lys)

HGVS:

• NC_000001.11:g.197103648C>T
• NG_015867.1:g.48047G>A
• NM_001206846.2:c.4066-7484G>A
• NM_018136.5:c.5603G>AMANE SELECT
• NP_060606.3:p.Arg1868Lys
• NC_000001.10:g.197072778C>T
• NM_018136.4:c.5603G>A

This HGVS expression did not pass validation

Protein change:

R1868K

Links:

dbSNP: rs761106315

NCBI 1000 Genomes Browser:

rs761106315

Molecular consequence:

• NM_001206846.2:c.4066-7484G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_018136.5:c.5603G>A - missense variant - [Sequence Ontology: SO:0001583]