Genomic variant #0000000149

Individual ID 00000081
Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.73472494A>G
DNA change (hg38) g.71712737A>G
Published as -
ISCN -
DB-ID CDH23_000034 See all 7 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00318 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
C10orf105 NM_001164375.2 ./. - c.*3199T>C - r.(=) p.(=) -
CDH23 NM_022124.5 ?/. - c.3293A>G - r.(?) p.(Asn1098Ser) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000081 DNA SEQ-NG - - ADAMTS13, ATP7B, CDH23, ETFB, FKTN, GLB1, HEXB, NPHS1, SERPINA1, SMPD1 11 LOVD-team, but with Curator vacancy