Genomic variant #0000000152

Individual ID 00000023, 00081409
Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.105798263C>T
DNA change (hg38) g.104038505C>T
Published as -
ISCN -
DB-ID COL17A1_000001
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00092 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

DNA/Legacy     
COL17A1 NM_000494.3 ?/. - c.2971G>A - - r.(?) p.(Val991Met) -
HTT NM_002111.6 -/- 2i c.348-2680C= A1a AMR - r.(?) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000023 DNA SEQ-NG - - ALPL, ATP7B, CBS, CEP290, COL17A1, CYP21A2, DPYD, GBA, GLB1, NHLRC1, SERPINA1, SLC26A2, SLC3A1, SMPD1 16 LOVD-team, but with Curator vacancy
0000081522 DNA SEQ;arraySNP;PCR - - HTT 138 Chris Kay