ClinVar

NM_018136.5(ASPM):c.6457T>C (p.Tyr2153His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197102794 (on Assembly GRCh38)
• Chr1: 197071924 (on Assembly GRCh37)

Preferred name:

NM_018136.5(ASPM):c.6457T>C (p.Tyr2153His)

HGVS:

• NC_000001.11:g.197102794A>G
• NG_015867.1:g.48901T>C
• NM_001206846.2:c.4066-6630T>C
• NM_018136.5:c.6457T>CMANE SELECT
• NP_060606.3:p.Tyr2153His
• NC_000001.10:g.197071924A>G
• NM_018136.4:c.6457T>C

This HGVS expression did not pass validation

Protein change:

Y2153H

Links:

dbSNP: rs1183851640

NCBI 1000 Genomes Browser:

rs1183851640

Molecular consequence:

• NM_001206846.2:c.4066-6630T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_018136.5:c.6457T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2