ClinVar

NM_018136.5(ASPM):c.3390+162A>G

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197123948 (on Assembly GRCh38)
• Chr1: 197093078 (on Assembly GRCh37)

Preferred name:

NM_018136.5(ASPM):c.3390+162A>G

HGVS:

• NC_000001.11:g.197123948T>C
• NG_015867.1:g.27747A>G
• NM_001206846.2:c.3390+162A>G
• NM_018136.5:c.3390+162A>GMANE SELECT
• NC_000001.10:g.197093078T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs139855488

NCBI 1000 Genomes Browser:

rs139855488

Molecular consequence:

• NM_001206846.2:c.3390+162A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_018136.5:c.3390+162A>G - intron variant - [Sequence Ontology: SO:0001627]