Genomic variant #0000667049

Individual ID 00000107
Chromosome 7
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.128850879C>T
DNA change (hg38) g.129211038C>T
Published as -
ISCN -
DB-ID SMO_000019 See all 3 reported entries
Variant remarks -
Reference PubMed: Le 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Sophie Thomas
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMO NM_005631.4 +?/. - c.1726C>T r.(?) p.(Arg576Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000107 DNA SEQ-NG - - ADA, BTD, CLN3, CYP21A2, GLB1, MEFV, MYO5A, NHLRC1, NPHS1, SERPINA1, SLC26A2, WNT10A 15 Global Variome, with Curator vacancy