ClinVar

NM_018136.5(ASPM):c.6759G>A (p.Lys2253=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197102492 (on Assembly GRCh38)
• Chr1: 197071622 (on Assembly GRCh37)

Preferred name:

NM_018136.5(ASPM):c.6759G>A (p.Lys2253=)

HGVS:

• NC_000001.11:g.197102492C>T
• NG_015867.1:g.49203G>A
• NM_001206846.2:c.4066-6328G>A
• NM_018136.5:c.6759G>AMANE SELECT
• NP_060606.3:p.Lys2253=
• NC_000001.10:g.197071622C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs748364690

NCBI 1000 Genomes Browser:

rs748364690

Molecular consequence:

• NM_001206846.2:c.4066-6328G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_018136.5:c.6759G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1