Genomic variant #0000000030

Individual ID 00000029, 00080167
Chromosome 1
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
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
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.3229 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

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 LOVD-team, but with Curator vacancy
0000080261 DNA SEQ blood - - 2 Francesca Marta Elli