Variant #0000000030 (NC_000001.10:g.197070442G>T, ASPM(NM_018136.4):c.7939C>A)

Individual ID 00000029, 00080167
Chromosome 1
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.197070442G>T
DNA change (hg38) g.197101312G>T
Published as -
ISCN -
DB-ID ASPM_000001 See all 4 reported entries
Variant remarks -
Reference PubMed: Almomani 2011 {dbSNP:3762271}
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.33557 View details
Owner Gerard C.P. Schaafsma
Database submission license No license selected
Created by Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     
PRKAR1A NM_002734.4 +?/+? 11 c.980T>C r.(980u>c) p.(Ile327Thr) - - -
ASPM NM_018136.4 ?/. - c.7939C>A r.(?) p.(Leu2647Ile) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000029 DNA SEQ-NG - - ALG9, ASPM, B3GLCT, BBS1, CBS, CC2D1A, CDK5RAP2, DLG3, DNMT3B, DPM1, DPP3, GLI3, JAG1, KRAS, MECP2, MPDU1, NLGN4X, NSD1, PHF8, PMM2, RAI1, REST, SATB2, SCN8A, SHANK3, SLC35C1, TCF4, TSC1, UPF3B, ZEB2, ZNF41 45 Global Variome, with Curator vacancy
0000080261 DNA SEQ blood - - 2 Francesca Marta Elli